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1 . Academic Journal
Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy
저자
by
Christopher Yanick
;
Renata Maciel
;
Elizabeth Jacobs
;
Jacquelyn Schatzman
;
Michael Shy
, et al.
소스
Stem Cell Research, Vol 78, Iss , Pp 103449- (2024)
Full Text (ScienceDirect)
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Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency
저자
by
Yi Zhu
;
Amanda G. Lobato
;
Adriana P. Rebelo
;
Tijana Canic
;
Natalie Ortiz-Vega
, et al.
소스
JCI Insight, Vol 8, Iss 10 (2023)
Open Access (DOAJ)
Web of Science
Scopus
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7 .
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs
저자
by
Adriana P Rebelo
;
Pedro J Tomaselli
;
Jessica Medina
;
Ying Wang
;
Maike Dohrn
, et al.
소스
Brain
.
Scopus
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7 .
PRUNE1 c.
933G
>A synonymous variant induces exon 7 skipping, disrupts the
DHHA2
domain, and leads to an atypical
NMIHBA
syndrome presentation: Case report and review of the literature
저자
by
Mario Saporta
;
Christina Magyar
;
Seema Lalani
.
소스
American Journal of Medical Genetics Part A
. 188:1868-1874
Web of Science
Scopus
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5 .
Continuing a search for a diagnosis: the impact of adolescence and family dynamics
저자
by
Mario Saporta
.
소스
Orphanet Journal of Rare Diseases
. 18
Open Access (BioMed Central)
Open Access (OpenAIRE)
Scopus
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3 .
De NovoVariants inMRTFBhave gain of function activity inDrosophilaand are associated with a novel neurodevelopmental phenotype with dysmorphic features
저자
by
Hugo Bellen
;
Bianca Russell
;
Mario Saporta
;
Oguz Kanca
;
Jonathan Andrews
.
소스
요약보기
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EndNote
RefWorks
7 .
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11
저자
by
Thomas A. Ravenscroft
;
Jennifer B. Phillips
;
Elizabeth Fieg
;
Sameer S. Bajikar
;
Judy Peirce
, et al.
소스
Genetics in medicine : official journal of the American College of Medical Genetics
Full Text (ScienceDirect O/A)
Open Access (OpenAIRE)
Web of Science
Scopus
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7 .
Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation
저자
by
Chloe Reuter
;
Mario Saporta
;
Mahshid Azamian
;
Jennefer Kohler
;
Mariko Nakano-Okuno
, et al.
소스
Journal of Genetic Counseling
. 31:326-337
Web of Science
Scopus
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7 .
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain
저자
by
Felix Marbach
;
Georgi Stoyanov
;
Florian Erger
;
Constantine A. Stratakis
;
Nikolaos Settas
, et al.
소스
Genetics in Medicine
Full Text (ScienceDirect O/A)
Open Access (OpenAIRE)
Web of Science
Scopus
JCR 저널정보
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EndNote
RefWorks
7 .
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
저자
by
Suma P. Shankar
;
Kristin Grimsrud
;
Louise Lanoue
;
Alena Egense
;
Brandon Willis
, et al.
소스
Genet Med
Open Access (OpenAIRE)
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