Seiji Mizuno

Seiji Mizuno

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Seiji Mizuno

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Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.

Am J Hum Genet 2019 Nov 3;105(5):987-995. Epub 2019 Oct 3.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Laboratory of Rare Disease Research, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo 113-8657, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848994PMC
November 2019

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752317PMC
September 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.nature.com/articles/s41436-018-0330-z
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http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273PMC
June 2019

SATB2-associated syndrome in patients from Japan: Linguistic profiles.

Am J Med Genet A 2019 06 7;179(6):896-899. Epub 2019 Mar 7.

Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.61114DOI Listing
June 2019

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.

Am J Hum Genet 2019 04 14;104(4):596-610. Epub 2019 Mar 14.

Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H4A 3J1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451697PMC
April 2019

Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood.

Brain Dev 2018 Sep 8;40(8):678-684. Epub 2018 May 8.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya 467-8601, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2018.04.008DOI Listing
September 2018

Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects.

Eur J Med Genet 2018 May 6;61(5):243-247. Epub 2017 Dec 6.

Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.12.004DOI Listing
May 2018

Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation.

Gene 2018 May 22;655:65-70. Epub 2018 Mar 22.

Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan; Department of Neurology, Neurology and Stroke Center, Takamatsu Municipal Hospital, Takamatsu, Kagawa, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2018.02.049DOI Listing
May 2018

Growth pattern of Rahman syndrome.

Am J Med Genet A 2018 03 31;176(3):712-714. Epub 2018 Jan 31.

Department of Pediatrics, Central Hospital, Aichi Human Service Center, Aichi, Japan.

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http://doi.wiley.com/10.1002/ajmg.a.38616
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http://dx.doi.org/10.1002/ajmg.a.38616DOI Listing
March 2018

Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.

Am J Med Genet A 2018 02 23;176(2):431-437. Epub 2017 Nov 23.

Department of Pediatrics, Aichi Human Service Center, Central Hospital, Aichi, Japan.

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http://dx.doi.org/10.1002/ajmg.a.38543DOI Listing
February 2018

Genomic Characterization of Chromosomal Insertions: Insights into the Mechanisms Underlying Chromothripsis.

Cytogenet Genome Res 2017 27;153(1):1-9. Epub 2017 Oct 27.

Division of Molecular Genetics, Institute for Comprehensive Medical Science (ICMS), and Genome and Transcriptome Analysis Center, Fujita Health University, Toyoake, Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Department of Pediatrics, Toyota Kosei Hospital, Toyota, Department of Obstetrics and Gynecology, Faculty of Medicine, Kagoshima University, and Takeuchi Ladies Clinic/Infertility Center, Kagoshima, and Education Center, Asahikawa Medical University, Hokkaido, Japan.

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http://dx.doi.org/10.1159/000481586DOI Listing
January 2018

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.

Genet Med 2017 12 31;19(12):1356-1366. Epub 2017 May 31.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

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http://dx.doi.org/10.1038/gim.2017.53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5729347PMC
December 2017

Haploinsufficiency of associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome.

Mol Genet Genomic Med 2017 Jul 22;5(4):429-437. Epub 2017 May 22.

Division of Medical GeneticsKanagawa Children's Medical CenterYokohamaJapan.

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http://dx.doi.org/10.1002/mgg3.289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511803PMC
July 2017

Disparities in visuo-spatial constructive abilities in Williams syndrome patients with typical deletion on chromosome 7q11.23.

Brain Dev 2017 Feb 29;39(2):145-153. Epub 2016 Sep 29.

Department of Functioning Science, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2016.09.003DOI Listing
February 2017

Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype.

Am J Med Genet A 2016 10 3;170(10):2587-90. Epub 2016 Jun 3.

Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

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http://doi.wiley.com/10.1002/ajmg.a.37761
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http://dx.doi.org/10.1002/ajmg.a.37761DOI Listing
October 2016

Typical visual search performance and atypical gaze behaviors in response to faces in Williams syndrome.

J Neurodev Disord 2016 24;8:38. Epub 2016 Oct 24.

Institute for Developmental Research, Aichi Human Service Center, 713-8 Kagiya-cho, Kasugai, Aichi 480-0392 Japan.

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http://dx.doi.org/10.1186/s11689-016-9172-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5075985PMC
October 2016

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype.

Eur J Hum Genet 2015 Aug 5;23(8):1062-7. Epub 2014 Nov 5.

1] Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan [2] Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.

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http://dx.doi.org/10.1038/ejhg.2014.234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795120PMC
August 2015

A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.

Am J Med Genet A 2015 Feb 25;167A(2):407-11. Epub 2014 Nov 25.

Division of Medical Genetics, Nagano Children's Hospital, Azumino, Japan; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36842DOI Listing
February 2015

Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.

Am J Med Genet A 2014 Mar 19;164A(3):597-609. Epub 2013 Dec 19.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36308DOI Listing
March 2014

Surgical intervention for esophageal atresia in patients with trisomy 18.

Am J Med Genet A 2014 Feb 5;164A(2):324-30. Epub 2013 Dec 5.

Division of Medical Genetics, Nagano Children's Hospital, Azumino, Japan; Department of Medical Genetics, Shinshu University Graduate School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36294DOI Listing
February 2014

Developmental changes in mental rotation ability and visual perspective-taking in children and adults with Williams syndrome.

Front Hum Neurosci 2013 11;7:856. Epub 2013 Dec 11.

Department of Functioning Science, Institute for Developmental Research, Aichi Human Service Center Aichi, Japan.

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http://dx.doi.org/10.3389/fnhum.2013.00856DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3858672PMC
December 2013

Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.

J Obstet Gynaecol Res 2013 Nov 2;39(11):1545-7. Epub 2013 Jul 2.

Departments of Obstetrics and Gynecology, Nagoya City University Graduate School of Medical Sciences, Nagoya; Division of Clinical and Molecular Genetics, Nagoya City University Graduate School of Medical Sciences, Nagoya.

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http://dx.doi.org/10.1111/jog.12081DOI Listing
November 2013

KDM6A point mutations cause Kabuki syndrome.

Hum Mutat 2013 Jan 17;34(1):108-10. Epub 2012 Oct 17.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1002/humu.22229DOI Listing
January 2013

Acoustic phonon modes and phononic bandgaps in GaN/AlN nanowire superlattices.

Authors:
Seiji Mizuno

Nanoscale Res Lett 2012 Aug 23;7(1):479. Epub 2012 Aug 23.

Department of Applied Physics, Hokkaido University, Kita 13 Nishi 8, Kita-ku, Sapporo, 060-8628, Japan.

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http://dx.doi.org/10.1186/1556-276X-7-479DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3499139PMC
August 2012

The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints.

Am J Med Genet A 2012 Jun 23;158A(6):1292-303. Epub 2012 Apr 23.

Department of Molecular Cytogenetics, Medical Research Institute and School of Biomedical Science, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.35321DOI Listing
June 2012

Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome.

Congenit Anom (Kyoto) 2012 Jun;52(2):82-6

Department of Pediatrics, Center for Clinical Research, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1111/j.1741-4520.2012.00356.xDOI Listing
June 2012

Ophthalmic features of CHARGE syndrome with CHD7 mutations.

Am J Med Genet A 2012 Mar 2;158A(3):514-8. Epub 2012 Feb 2.

Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.34400DOI Listing
March 2012

MBTPS2 mutation causes BRESEK/BRESHECK syndrome.

Am J Med Genet A 2012 Jan 21;158A(1):97-102. Epub 2011 Nov 21.

Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan.

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http://doi.wiley.com/10.1002/ajmg.a.34373
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http://dx.doi.org/10.1002/ajmg.a.34373DOI Listing
January 2012

Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter).

Am J Med Genet A 2011 Sep 10;155A(9):2274-80. Epub 2011 Aug 10.

Department of Clinical Genetics, Central Hospital, Aichi Human Service Center, Kasugai, Japan.

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http://dx.doi.org/10.1002/ajmg.a.34160DOI Listing
September 2011

[Acute lymphoblastic leukemia in a pediatric patient with Marfan's syndrome].

Rinsho Ketsueki 2011 Jan;52(1):28-31

Department of Pediatrics, Anjo Kosei Hospital.

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January 2011

Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation.

Am J Med Genet A 2010 Dec;152A(12):3057-67

Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan.

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http://dx.doi.org/10.1002/ajmg.a.33174DOI Listing
December 2010

[Intervention to reduce the difficulty in kanji copying related to the visuo-spatial dysfunction in patients with Williams syndrome].

No To Hattatsu 2010 Sep;42(5):353-8

Institute for Developmental Research, Central Hospital, Kasugai, Aichi.

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September 2010

Successful treatment with rituximab of refractory idiopathic thrombocytopenic purpura in a patient with Kabuki syndrome.

Int J Hematol 2009 Sep 7;90(2):174-176. Epub 2009 Aug 7.

Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.

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http://link.springer.com/10.1007/s12185-009-0387-1
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http://dx.doi.org/10.1007/s12185-009-0387-1DOI Listing
September 2009

Development of visuospatial ability and kanji copying in Williams Syndrome.

Pediatr Neurol 2009 Aug;41(2):95-100

Department of Functioning Science of the Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan.

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http://dx.doi.org/10.1016/j.pediatrneurol.2009.02.005DOI Listing
August 2009

Acoustic phonon modes and dispersion relations of nanowire superlattices.

J Phys Condens Matter 2009 May 16;21(19):195303. Epub 2009 Apr 16.

Department of Applied Physics, Graduate School of Engineering, Hokkaido University, Sapporo 060-8628, Japan.

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http://dx.doi.org/10.1088/0953-8984/21/19/195303DOI Listing
May 2009

The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation.

Am J Med Genet A 2008 Aug;146A(16):2145-51

Department of Molecular Cytogenetics, Medical Research Institute and School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.32433DOI Listing
August 2008

Recombination of a maternal pericentric inversion results in 22q13 deletion syndrome.

Clin Dysmorphol 2008 Jan;17(1):19-21

Department of Neonatology, Toyota Memorial Hospital, Toyota, Aichi, Japan.

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http://dx.doi.org/10.1097/MCD.0b013e3281c1c81dDOI Listing
January 2008

Two cases of partial trisomy 21 (pter-q22.1) without the major features of Down syndrome.

Am J Med Genet A 2006 Feb;140(3):227-32

Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan.

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http://dx.doi.org/10.1002/ajmg.a.31073DOI Listing
February 2006

Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome.

Brain Dev 2005 Aug 13;27(5):378-82. Epub 2005 Apr 13.

Division of Medical Genetics, Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Kanagawa 232-8555, Japan.

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http://dx.doi.org/10.1016/j.braindev.2005.02.004DOI Listing
August 2005

[Tracheostomy for home-care patients with severe motor and intellectual disabilities].

No To Hattatsu 2005 Jul;37(4):293-8

Department of Pediatric Neurology, Aichi Welfare Center for Persons with Developmental Disabilities, Kasugai, Aichi.

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July 2005

Clinical variability in a Japanese hereditary lymphedema type I family with an FLT4 mutation.

Congenit Anom (Kyoto) 2005 Jun;45(2):59-61

Department of Pediatrics, Central Hospital, Aichi Human Service Center, Aichi 480-0392, Japan.

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http://dx.doi.org/10.1111/j.1741-4520.2005.00064.xDOI Listing
June 2005