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1 . Academic Journal
P400: Expanding the phenotype of NAA10 related Ogden syndrome
저자
by
Brooke Schwartz
;
Juan Cordero
;
Potyra Rosa
;
Craig McKeown
;
Parul Jayakar
.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101294- (2024)
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7 . Academic Journal
P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis
저자
by
Can Ficicioglu
;
Nicole Muschol
;
Barbara Burton
;
Martin Magner
;
Mercedes Gil-Campos
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101385- (2024)
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7 . Academic Journal
Report of two cases of Schaaf‐Yang syndrome: Same genotype and different phenotype
저자
by
Ana Maria Rodriguez
;
Katherine Schain
;
Parul Jayakar
;
Meredith S. Wright
;
Shimul Chowdhury
, et al.
소스
Clinical Case Reports, Vol 11, Iss 8, Pp n/a-n/a (2023)
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7 . Academic Journal
P572: Detecting short tandem repeat expansions: Three-year experience with clinical whole genome sequencing (cWGS) for a rare and undiagnosed population
저자
by
Brittany Thomas
;
Akanchha Kesari
;
Aime Lumaka
;
Mario Cornejo-Olivas
;
David Ward
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100619- (2023)
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7 . Academic Journal
Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3
저자
by
Divya Nair
;
Dong Li
;
Hannah Erdogan
;
Andrew Yoon
;
Margaret H. Harr
, et al.
소스
HGG Advances, Vol 3, Iss 4, Pp 100122- (2022)
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7 . Academic Journal
Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings
저자
by
Christopher M. McGraw
;
Sonal Mahida
;
Parul Jayakar
;
Hyun Yong Koh
;
Alan Taylor
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 8, Iss 3, Pp 716-722 (2021)
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7 . Academic Journal
Case Report: The Association of Wilson Disease in a Patient With Ataxia and GLUT-1 Deficiency
저자
by
Jenna Diaz
;
Ashley G. Fonseca
;
Richard Arboleda
;
Alejandro Frade
;
Maria Pilar Gennaro
, et al.
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Frontiers in Pediatrics, Vol 9 (2021)
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7 . Academic Journal
Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3
저자
by
Divya Nair
;
Dong Li
;
Hannah Erdogan
;
Andrew Yoon
;
Margaret H. Harr
, et al.
소스
HGG Advances, Vol 2, Iss 2, Pp 100024- (2021)
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7 . Academic Journal
PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis
저자
by
Varun Aggarwal
;
Nancy Dobrolet
;
Steven Fishberger
;
Jenny Zablah
;
Parul Jayakar
, et al.
소스
Annals of Pediatric Cardiology, Vol 8, Iss 2, Pp 153-156 (2015)
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7 .
Report of Two cases of Schaaf-Yang Syndrome: Same Genotype, Different Phenotype
저자
by
Ana Maria Rodriguez Barreto
;
Katherine Schain
;
Parul Jayakar
;
Meredith Wright
;
Shimul Chowdhury
, et al.
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