Publications by authors named "Jullianne Diaz"

12Publications

Unique skeletal manifestations in patients with Primrose syndrome.

Eur J Med Genet 2020 Aug 27;63(8):103967. Epub 2020 May 27.

Institute of Medical Genetics and Genomics, New Delhi, India. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103967DOI Listing
August 2020

Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome.

Am J Med Genet A 2020 03 3;182(3):425-430. Epub 2020 Jan 3.

Rare Disease Institute, Children's National Health System, Washington, District of Columbia.

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http://dx.doi.org/10.1002/ajmg.a.61476DOI Listing
March 2020

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.

Am J Hum Genet 2020 01 19;106(1):92-101. Epub 2019 Dec 19.

Wellcome Centre for Mitochondrial Research, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042492PMC
January 2020

TFE3-associated neurodevelopmental disorder: A distinct recognizable syndrome.

Am J Med Genet A 2020 03 12;182(3):584-590. Epub 2019 Dec 12.

Clinical Genetics, Rare Disease Institute, Children's National Health System, Washington, District of Columbia.

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http://dx.doi.org/10.1002/ajmg.a.61437DOI Listing
March 2020

Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies.

Am J Med Genet A 2020 01 6;182(1):201-204. Epub 2019 Nov 6.

Department of Genetics, Microbiology and Statistics, Faculty of Biology, IBUB, IRSJD, CIBERER, University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1002/ajmg.a.61397DOI Listing
January 2020

MAP1B related syndrome: Case presentation and review of literature.

Am J Med Genet A 2019 09 17;179(9):1703-1708. Epub 2019 Jul 17.

Rare Disease Institute, Children's National Health System, Washington, District of Columbia.

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http://dx.doi.org/10.1002/ajmg.a.61280DOI Listing
September 2019