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1 . Academic Journal
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation
저자
by
Andrea Accogli
;
Saurabh Shakya
;
Taewoo Yang
;
Christine Insinna
;
Soo Yeon Kim
, et al.
소스
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Open Access (DOAJ)
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7 . Academic Journal
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities
저자
by
Volkan Okur
;
Zefu Chen
;
Liesbeth Vossaert
;
Sandra Peacock
;
Jill Rosenfeld
, et al.
소스
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
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7 . Academic Journal
KDM5A mutations identified in autism spectrum disorder using forward genetics
저자
by
Lauretta El Hayek
;
Islam Oguz Tuncay
;
Nadine Nijem
;
Jamie Russell
;
Sara Ludwig
, et al.
소스
eLife, Vol 9 (2020)
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7 .
Evidence for an association between
Coffin‐Siris
syndrome and congenital diaphragmatic hernia
저자
by
Yoel Gofin
;
Xiaonan Zhao
;
Amanda Gerard
;
Fernando Scaglia
;
Michael F. Wangler
, et al.
소스
American Journal of Medical Genetics Part A
. 188:2718-2723
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7 .
Stankiewicz-Isidor syndrome
저자
by
Ignacio Briceño
;
Frédéric Ebstein
;
Alberto Gómez
;
Heidi Cope
;
Wallid Deb
, et al.
소스
Genetics in Medicine, 24(1), 179-191. Lippincott Williams & Wilkins
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7 .
Access to clinically indicated genetic tests for pediatric patients with Medicaid: Evidence from outpatient genetics clinics in Texas
저자
by
Haley Streff
;
Crescenda L. Uhles
;
Heather Fisher
;
Rachel Franciskovich
;
Rebecca O. Littlejohn
, et al.
소스
Genetics in Medicine
. 25:100350
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7 .
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
저자
by
Paul C. Marcogliese
;
Samantha L. Deal
;
Jonathan Andrews
;
J. Michael Harnish
;
V. Hemanjani Bhavana
, et al.
소스
Cell Reports, 38(11):110517. Cell Press
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7 .
Clinical characterization of individuals with the distal 1q21.1 microdeletion
저자
by
Jill A. Rosenfeld
;
Amanda Gerard
;
Lauren E. Westerfield
;
Stacey Edwards
;
Jennifer E. Posey
, et al.
소스
American Journal of Medical Genetics Part A
. 185:1388-1398
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7 .
eP132: Congenital diaphragmatic hernia as a feature of Coffin Siris syndrome type 2
저자
by
Yoel Gofin
;
Amanda Gerard
;
Michael Wangler
;
Daryl Scott
.
소스
Genetics in Medicine
. 24:S82
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6 .
eP517: Differences in genetic testing uptake in a large metropolitan pediatric outpatient genetics clinic over time
저자
by
Haley Streff
;
Katie Chan
;
Amanda Gerard
;
Farah Ladha
;
Pilar Magoulas
, et al.
소스
Genetics in Medicine
. 24:S330
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