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1 . Academic Journal
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases
저자
by
Matheus V. M. B. Wilke
;
Eric W. Klee
;
Radhika Dhamija
;
Fernando C. Fervenza
;
Brittany Thomas
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
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7 . Academic Journal
Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease
저자
by
Numrah Fadra
;
Laura E Schultz-Rogers
;
Pritha Chanana
;
Margot A Cousin
;
Erica L Macke
, et al.
소스
BMC Genomics, Vol 25, Iss 1, Pp 1-16 (2024)
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7 . Academic Journal
An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report
저자
by
Karina Carvalho Donis
;
Marco Antônio Baptista Kalil
;
Fabiano Poswar
;
Fernando Kok
;
Charles Lubianca Kohem
, et al.
소스
Genetics and Molecular Biology, Vol 47, Iss 1 (2024)
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7 . Academic Journal
Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
저자
by
Filippo Pinto e Vairo
;
Jennifer L. Kemppainen
;
Carolyn R. Rohrer Vitek
;
Denise A. Whalen
;
Kayla J. Kolbert
, et al.
소스
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-2 (2024)
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7 . Academic Journal
Disease progression in Sanfilippo type B: Case series of Brazilian patients
저자
by
Yorran Hardman Araújo Montenegro
;
Francyne Kubaski
;
Franciele Barbosa Trapp
;
Mariluce Riegel-Giugliani
;
Carolina Fischinger Moura de Souza
, et al.
소스
Genetics and Molecular Biology, Vol 47, Iss 1 (2024)
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7 . Academic Journal
O39: The ClinGen Lysosomal Diseases Variant Curation Expert Panel’s guidance on classification of IDUA variants for mucopolysaccharidosis type I
저자
by
Jenny Goldstein
;
Amber Waddell
;
Carlos Aschoff
;
Xiangwen Chen-Deutsch
;
Matthew Ellinwood
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 100877- (2024)
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7 . Academic Journal
P252: Development of a scoring system to define lysosomal diseases
저자
by
Matheus Wilke
;
Jenny Goldstein
;
Emily Groopman
;
Shruthi Mohan
;
Amber Waddell
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101148- (2024)
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7 . Academic Journal
P348: Agnostic analysis of transcriptome sequencing of patients with suspected Mendelian diseases
저자
by
Jan Verheijen
;
Nancy William
;
Marta Figueiral
;
Rory Olson
;
Deepak Panwar
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101242- (2024)
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7 . Academic Journal
P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease
저자
by
Dona Kanavy
;
Jenny Goldstein
;
Filippo Pinto e Vairo
;
Deeksha Bali
;
Xiangwen Chen-Deutsch
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101599- (2024)
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7 . Academic Journal
GBA1 variants in Brazilian Gaucher disease patients
저자
by
Suelen Porto Basgalupp
;
Vivian Altmann
;
Filippo Pinto e Vairo
;
Ida Vanessa Doederlein Schwartz
;
Marina Siebert
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101006- (2023)
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