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1 . Academic Journal
Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome
저자
by
Elizabeth E. Blue
;
Janson J. White
;
Michael K. Dush
;
William W. Gordon
;
Brent H. Wyatt
, et al.
소스
HGG Advances, Vol 4, Iss 4, Pp 100232- (2023)
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7 . Academic Journal
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
저자
by
Jessica X. Chong
;
Matthew Carter Childers
;
Colby T. Marvin
;
Anthony J. Marcello
;
Hernan Gonorazky
, et al.
소스
HGG Advances, Vol 4, Iss 3, Pp 100213- (2023)
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7 .
Centers for Mendelian Genomics: A decade of facilitating gene discovery
저자
by
Samantha M. Baxter
;
Jennifer E. Posey
;
Nicole J. Lake
;
Nara Sobreira
;
Jessica X. Chong
, et al.
소스
Genet Med
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7 .
Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting
저자
by
Alina I. Esterhuizen
;
Nicki Tiffin
;
Gillian Riordan
;
Marie Wessels
;
Richard J. Burman
, et al.
소스
Genetics in Medicine
. 25:100333
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7 .
Further delineation of van den
Ende‐Gupta
syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome
저자
by
Zainab Al Masseri
;
Danny E. Miller
;
Angela E. Lin
;
Fowzan S. Alkuraya
;
Colby T. Marvin
, et al.
소스
American Journal of Medical Genetics Part A
. 185:2136-2149
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7 .
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis
저자
by
Arthur S. Aylsworth
;
Kathryn M. Shively
;
Kati J. Buckingham
;
Mariam Al-Mulla
;
Paul M.L. Janssen
, et al.
소스
Am J Hum Genet
Open Access (OpenAIRE)
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7 .
Response to Hall et al
저자
by
Tawfeg Ben-Omran
;
Xenia Latypova
;
Jared C. Talbot
;
Reem Saadeh-Haddad
;
Julien Fauré
, et al.
소스
The American Journal of Human Genetics
. 107:1188-1189
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7 .
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder
저자
by
Gali Heimer
;
Juha M. Kerätär
;
Lisa G. Riley
;
Shanti Balasubramaniam
;
Eran Eyal
, et al.
소스
The American Journal of Human Genetics
. 99:1229-1244
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7 .
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3
저자
by
Jessica X. Chong
;
Lindsay C. Burrage
;
Anita E. Beck
;
Colby T. Marvin
;
Margaret J. McMillin
, et al.
소스
American journal of human genetics, vol 96, iss 5
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7 .
Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy
저자
by
Marco Tartaglia
;
Richard Webster
;
Jennifer C. Dempsey
;
Caputo
;
Aerilynn Nguyen
, et al.
소스
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