Chitra Prasad

Chitra Prasad

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Chitra Prasad

Publications by authors named "Chitra Prasad"

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72Publications

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Use of complementary and alternative medicine in patients with inborn errors of metabolism: A single-center study.

JIMD Rep 2020 Jan 18;51(1):105-112. Epub 2019 Dec 18.

Department of Paediatrics Western University London Ontario Canada.

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http://dx.doi.org/10.1002/jmd2.12089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012736PMC
January 2020

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.

JIMD Rep 2019 Nov 3;50(1):20-30. Epub 2019 Sep 3.

Division of Clinical and Metabolic Genetics, Department of Paediatrics University of Toronto, The Hospital for Sick Children Toronto Ontario Canada.

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http://dx.doi.org/10.1002/jmd2.12057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850977PMC
November 2019

Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease: Case and Review.

Can J Neurol Sci 2019 07 6;46(4):459-463. Epub 2019 May 6.

Department of Pediatrics, London, Ontario,Canada.

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https://www.cambridge.org/core/product/identifier/S031716711
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http://dx.doi.org/10.1017/cjn.2019.35DOI Listing
July 2019

Kidney disease and organ transplantation in methylmalonic acidaemia.

Pediatr Transplant 2019 06 11;23(4):e13407. Epub 2019 Apr 11.

Department of Paediatrics, Western University, London, Ontario, Canada.

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http://dx.doi.org/10.1111/petr.13407DOI Listing
June 2019

Photogrammetric reliability of frontal facial photographs with radiographs and anthropometric measurements.

J Oral Biol Craniofac Res 2019 Jul-Sep;9(3):280-285. Epub 2019 Jun 19.

Department of Orthodontics and Dentofacial Orthopedics, Army College of Dental Sciences, Secunderabad, Telangana, India.

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http://dx.doi.org/10.1016/j.jobcr.2019.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6593212PMC
June 2019

Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3.

Eur J Med Genet 2019 Apr 11;62(4):273-277. Epub 2018 Aug 11.

Department of Paediatric Neurology, Children's Hospital London Health Science Centre, London, ON, Canada; Epidemiology and Statistics, Schulich School of Medicine & Dentistry, Western University, London, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.08.004DOI Listing
April 2019

Twinkle-Associated Mitochondrial DNA Depletion.

Pediatr Neurol 2019 01 9;90:61-65. Epub 2018 Aug 9.

Department of Paediatrics, Children's Health Research Institute, Western University, London, Ontario, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08878994183007
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http://dx.doi.org/10.1016/j.pediatrneurol.2018.08.007DOI Listing
January 2019

Nephrological and urological complications of homozygous c.974G>A (p.Arg325Gln) OSGEP mutations.

Pediatr Nephrol 2018 11 23;33(11):2201-2204. Epub 2018 Aug 23.

Department of Pediatrics, Schulich School of Medicine and Dentistry, University of Western Ontario, Children's Hospital, London Health Science Centre, 800 Commissioners Road East, London, ON, N6A 5W9, Canada.

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http://dx.doi.org/10.1007/s00467-018-4060-xDOI Listing
November 2018

Magnetic resonance imaging in the diagnosis of white matter signal abnormalities.

Neuroradiol J 2018 Aug 8;31(4):362-371. Epub 2018 Mar 8.

1 Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.

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http://dx.doi.org/10.1177/1971400918764016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6111436PMC
August 2018

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.nature.com/doifinder/10.1038/ng.3933
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http://dx.doi.org/10.1038/ng.3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819591PMC
October 2017

Eight-year-old girl with hepatomegaly.

Paediatr Child Health 2017 Jun 8;22(3):115-116. Epub 2017 May 8.

Department of Pediatrics, London Health Sciences Centre, London, Ontario Department of Medicine, Western University, London, Ontario.

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http://dx.doi.org/10.1093/pch/pxx036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5804887PMC
June 2017

Benign reactive lymphadenopathy associated with submandibular gland enlargement during orthodontic treatment.

J Oral Maxillofac Pathol 2017 Jan-Apr;21(1):181

Department of Oral Pathology, Army College of Dental Sciences, Secunderabad, Telangana, India.

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http://dx.doi.org/10.4103/0973-029X.203805DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5406809PMC
May 2017

Photogrammetric Correlation of Face with Frontal Radiographs and Direct Measurements.

J Clin Diagn Res 2017 May 1;11(5):ZC79-ZC83. Epub 2017 May 1.

Professor and Head, Department of Orthodontics, Army College of Dental Sciences, Secunderabad, Telangana, India.

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http://dx.doi.org/10.7860/JCDR/2017/28249.9924DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5483816PMC
May 2017

Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer.

Clin Dysmorphol 2017 Apr;26(2):117-120

aDepartment of Paediatrics, Isaac Walton Killam Health Centre, Dalhousie University, Halifax, Nova Scotia bMedical Genetics Program of Southwestern Ontario cDepartment of Pathology & Laboratory Medicine and Biochemistry, London Health Sciences Centre dDepartment of Paediatrics, London Health Sciences Centre, Western University eChildren's Health Research Institute, London, Ontario, Canada.

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http://dx.doi.org/10.1097/MCD.0000000000000148DOI Listing
April 2017

Clinical Instrument Refurbishment-A Chair side Technique.

J Clin Diagn Res 2016 Nov 1;10(11):ZH01-ZH02. Epub 2016 Nov 1.

Professor and Head, Department of Orthodontics and Dentofacial Orthopaedics, Army College of Dental Sciences , Secunderabad, Telangana, India .

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http://dx.doi.org/10.7860/JCDR/2016/20413.8767DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5198476PMC
November 2016

Seizures Related to Hypomagnesemia: A Case Series and Review of the Literature.

Child Neurol Open 2016 Jan-Dec;3:2329048X16674834. Epub 2016 Oct 27.

Department of Pediatrics, Schulich School of Medicine & Dentistry, Western University, London, Ontario, Canada.

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http://dx.doi.org/10.1177/2329048X16674834DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417264PMC
October 2016

Rapid Maxillary Expansion to Correct Palatal Fracture Malunion: A Case Report.

J Clin Diagn Res 2016 May 1;10(5):ZD01-2. Epub 2016 May 1.

Reader, Department of Oral and Maxillofacial Surgery, Army College of Dental Sciences , Secunderabad, India .

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http://dx.doi.org/10.7860/JCDR/2016/18953.7742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4948547PMC
May 2016

Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).

Mol Genet Metab 2015 Nov 31;116(3):146-51. Epub 2015 Aug 31.

Department of Pediatrics London Health Sciences Centre and Western University, London ON, Canada; Department of Pathology and Laboratory Medicine Western University, London, ON, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2015.08.010DOI Listing
November 2015

Altered Passive Eruption Complicating Optimal Orthodontic Bracket Placement: A Case Report and Review of Literature.

J Clin Diagn Res 2015 Nov 1;9(11):ZD01-3. Epub 2015 Nov 1.

Professor and Head, Department of Orthodontics, Army College of Dental Sciences , Secunderabad, India .

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http://dx.doi.org/10.7860/JCDR/2015/15852.6713DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4668529PMC
November 2015

Modified SARME (Surgically Assisted Rapid Maxillary Expansion) in Conjunction with Orthodontic Treatment-A Case Report.

J Clin Diagn Res 2015 Oct 1;9(10):ZD20-2. Epub 2015 Oct 1.

Reader, Department of Oral and Maxillofacial Surgery, Army College of Dental Sciences , Secunderabad, Telangana, India .

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http://dx.doi.org/10.7860/JCDR/2015/15923.6687DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4625349PMC
October 2015

Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population.

Am J Med Genet A 2015 Sep 6;167A(9):2098-102. Epub 2015 May 6.

Division of Clinical and Metabolics Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.37134
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http://dx.doi.org/10.1002/ajmg.a.37134DOI Listing
September 2015

Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.

Can J Neurol Sci 2014 Sep;41(5):626-31

Departments of Paediatrics,Western University,London,Ontario,Canada.

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http://www.journals.cambridge.org/abstract_S0317167114000122
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http://dx.doi.org/10.1017/cjn.2014.12DOI Listing
September 2014

Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency.

Mol Genet Genomic Med 2014 Jan 18;2(1):73-80. Epub 2013 Nov 18.

Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University London, Ontario, N6A 5K8, Canada ; Department of Biochemistry Schulich School of Medicine and Dentistry, Western University London, Ontario, N6A 5C1, Canada.

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http://dx.doi.org/10.1002/mgg3.46DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3907916PMC
January 2014

Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings.

Mol Genet Metab 2013 Mar 31;108(3):190-4. Epub 2012 Dec 31.

Department of Paediatrics, Children's Hospital, London Health Sciences Centre, Western University, London, ON, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192120073
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http://dx.doi.org/10.1016/j.ymgme.2012.12.007DOI Listing
March 2013

Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria.

Mol Genet Metab 2012 Dec 24;107(4):756-9. Epub 2012 Oct 24.

Department of Paediatrics, Children's Hospital of Western Ontario, Western University London, Ontario Canada.

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http://dx.doi.org/10.1016/j.ymgme.2012.10.019DOI Listing
December 2012

Transcobalamin (TC) deficiency and newborn screening.

J Inherit Metab Dis 2012 Jul 14;35(4):727. Epub 2011 Dec 14.

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http://dx.doi.org/10.1007/s10545-011-9431-4DOI Listing
July 2012

Risk factors for nonsyndromic holoprosencephaly: a Manitoba case-control study.

Am J Med Genet A 2012 Apr 14;158A(4):751-8. Epub 2012 Mar 14.

Department of Pediatrics, William Osler Health System, Brampton, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35240DOI Listing
April 2012

Neurofibromatosis and velopharyngeal insufficiency: is there an association?

J Otolaryngol Head Neck Surg 2012 Feb;41(1):58-64

Department of Otolaryngology-Head and Neck Surgery, London Health Sciences Centre–Victoria Hospital, London, ON N6A 5W9.

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February 2012

Coma, hyperammonemia, metabolic acidosis, and mutation: lessons learned in the acute management of late onset urea cycle disorders.

Hemodial Int 2012 Jan;16(1):95-100

Division of Nephrology, London Health Sciences Centre, The University of Western Ontario, London, Ontario, Canada.

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http://dx.doi.org/10.1111/j.1542-4758.2011.00591.xDOI Listing
January 2012

Pyruvate dehydrogenase deficiency and epilepsy.

Brain Dev 2011 Nov 9;33(10):856-65. Epub 2011 Sep 9.

Department of Pediatrics, University of Western Ontario, London, Ontario, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S03877604110021
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http://dx.doi.org/10.1016/j.braindev.2011.08.003DOI Listing
November 2011

Menkes disease and infantile epilepsy.

Brain Dev 2011 Nov 16;33(10):866-76. Epub 2011 Sep 16.

Department of Pediatrics, University of Western Ontario, London, Ontario, Canada.

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http://dx.doi.org/10.1016/j.braindev.2011.08.002DOI Listing
November 2011

Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy.

Brain Dev 2011 Oct 22;33(9):758-69. Epub 2011 Jul 22.

Department of Pediatrics, University of Western Ontario, London, Canada.

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http://www.researchgate.net/profile/Shanti_Balasubramaniam/p
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http://dx.doi.org/10.1016/j.braindev.2011.05.014DOI Listing
October 2011

Asymptomatic critical hypoglycaemia: a dangerous presentation of glycogen storage disease type Ib in infancy.

Acta Paediatr 2011 Sep 15;100(9):e130-2. Epub 2011 Mar 15.

Department of Paediatrics, Children's Hospital, London Health Sciences Centre, University of Western Ontario, London, ON, Canada.

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http://dx.doi.org/10.1111/j.1651-2227.2011.02208.xDOI Listing
September 2011

Ornithine transcarbamylase deficiency presenting as recurrent abdominal pain in childhood.

Pediatr Emerg Care 2011 Sep;27(9):850-3

Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada.

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http://dx.doi.org/10.1097/PEC.0b013e31822c25c9DOI Listing
September 2011

Amish microcephaly: Long-term survival and biochemical characterization.

Am J Med Genet A 2010 Jul;152A(7):1747-51

Department of Pediatrics, University of Western Ontario, London, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.33373DOI Listing
July 2010

Ataxia-telangiectasia: atypical presentation and toxicity of cancer treatment.

Can J Neurol Sci 2009 Jul;36(4):462-7

Section of Pediatric Hematology/Oncology, Department of Pediatrics & Child Health, University of Manitoba & Health Sciences Centre, Winnipeg, MB, Canada.

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http://dx.doi.org/10.1017/s0317167100007794DOI Listing
July 2009

Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder.

Pediatr Nephrol 2007 Dec 14;22(12):2097-103. Epub 2007 Sep 14.

Department of Pediatrics, University of Western Ontario, London, ON, Canada.

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http://dx.doi.org/10.1007/s00467-007-0604-1DOI Listing
December 2007

Agenesis of the corpus callosum and cerebral anomalies in inborn errors of metabolism.

Congenit Anom (Kyoto) 2007 Dec;47(4):125-35

Section of Clinical Neurosciences, Department of Pediatrics and Child Health, Unviersity of Western Ontario, London, ON, Canada.

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http://dx.doi.org/10.1111/j.1741-4520.2007.00160.xDOI Listing
December 2007

CHARGE syndrome.

Orphanet J Rare Dis 2006 Sep 7;1:34. Epub 2006 Sep 7.

Department of Pediatrics, IWK Health Centre, Dalhousie University, Canada.

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http://dx.doi.org/10.1186/1750-1172-1-34DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1586184PMC
September 2006

Congenital indifference to pain and deletion of chromosome 10q-: new association.

J Child Neurol 2006 Feb;21(2):174-7

Department of Pediatrics, University of Manitoba, Winnipeg, Canada.

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http://dx.doi.org/10.1177/08830738060210022001DOI Listing
February 2006

The floppy infant: retrospective analysis of clinical experience (1990-2000) in a tertiary care facility.

J Child Neurol 2005 Oct;20(10):803-8

Section of Pediatric Neurosciences, Faculty of Medicine, University of Manitoba, Winnipeg, MB, Canada.

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http://dx.doi.org/10.1177/08830738050200100401DOI Listing
October 2005

CHARGE syndrome from birth to adulthood: an individual reported on from 0 to 33 years.

Am J Med Genet A 2005 Mar;133A(3):344-9

Medical Student, Dalhousie University, Nova Scotia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.30565DOI Listing
March 2005

An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study.

Am J Med Genet A 2005 Mar;133A(3):309-17

Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.30560DOI Listing
March 2005

Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.

Nat Genet 2004 Oct 29;36(10):1053-5. Epub 2004 Aug 29.

Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA.

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http://dx.doi.org/10.1038/ng1420DOI Listing
October 2004

The importance of gut motility in the metabolic control of propionic acidemia.

J Pediatr 2004 Apr;144(4):532-5

Division of Genetics, Children's Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1016/j.jpeds.2003.12.044DOI Listing
April 2004

The floppy infant: contribution of genetic and metabolic disorders.

Brain Dev 2003 Oct;25(7):457-76

Section of Pediatric Neurosciences, Department of Pediatrics and Child Health, Faculty of Medicine, University of Manitoba, Manitoba, Canada.

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http://dx.doi.org/10.1016/s0387-7604(03)00066-4DOI Listing
October 2003

Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases.

Am J Med Genet A 2003 Sep;122A(1):63-9

Division of Medical Genetics, Department of Pediatrics, Ramathibodi Hospital, Bangkok, Thailand.

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http://dx.doi.org/10.1002/ajmg.a.20241DOI Listing
September 2003

Smith-Magenis syndrome.

Authors:
Chitra Prasad

CMAJ 2003 Sep;169(6):543, 545; author reply 545

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC191273PMC
September 2003

Genetics and cardiac anomalies: the heart of the matter.

Indian J Pediatr 2002 Apr;69(4):321-32

Department of Pediatrics, Children's Hospital, Winnipeg, Canada.

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http://dx.doi.org/10.1007/bf02723219DOI Listing
April 2002

Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.

Am J Med Genet 2002 Feb;108(1):64-8

Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Canada.

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http://dx.doi.org/10.1002/ajmg.10211DOI Listing
February 2002