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1 . Academic Journal
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
저자
by
Bosch, Elisabeth
;
Popp, Bernt
;
Güse, Esther
;
Skinner, Cindy
;
van der Sluijs, Pleuntje J.
, et al.
소스
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Genetics in Medicine
November 2023 25(11)
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7 . Academic Journal
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders
저자
by
May, Halie J.
;
Jeong, Jaehoon
;
Revah-Politi, Anya
;
Cohen, Julie S.
;
Chassevent, Anna
, et al.
소스
In
Genetics in Medicine
October 2021 23(10):1912-1921
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7 . Academic Journal
Impact of patient education videos on genetic counseling outcomes after exome sequencing
저자
by
Hernan, Rebecca
;
Cho, Megan T.
;
Wilson, Ashley L.
;
Ahimaz, Priyanka
;
Au, Catherine
, et al.
소스
In
Patient Education and Counseling
January 2020 103(1):127-135
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7 . Academic Journal
Molecular diagnostic dilemmas in Rett syndrome
저자
by
Zvereff, Val
;
Carpenter, Lori
;
Patton, Dagny
;
Cabral, Huong
;
Rita, Debra
, et al.
소스
In
Brain and Development
October 2012 34(9):750-755
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7 . Book
Capítulo 8 - Genética
저자
by
Anyane-Yeboa, Kwame
;
Pereira, Elaine M.
;
Iglesias, Alejandro
.
소스
In
Pediatría. Secretos
Edition: Seventh Edition. 2022:262-286
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5 . Book
Chapter 8 - Genetics
저자
by
Anyane-Yeboa, Kwame
;
Pereira, Elaine M.
;
Iglesias, Alejandro
.
소스
In
Pediatric Secrets
Edition: Seventh Edition. 2021:262-286
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5 . Academic Journal
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.
저자
by
McGee, Stacey R
;
Rajamanickam, Shivakumar
;
Adhikari, Sandeep
;
Falayi, Oluwatosin C
;
Wilson, Theresa A
, et al.
소스
Human Molecular Genetics; Feb2023, Vol. 32 Issue 3, p386-401, 16p
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7 .
Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies
저자
by
Jain, Namrata G.
;
Ahram, Dina F.
;
Marasa, Maddalena
;
Rehman, Ateeq U.
;
May, Halie J.
, et al.
소스
In
Kidney International Reports
October 2022 7(10):2312-2316
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7 . Academic Journal
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.
저자
by
Banka, Siddharth
;
Bennington, Abigail
;
Baker, Martin J
;
Rijckmans, Ellen
;
Clemente, Giuliana D
, et al.
소스
Brain: A Journal of Neurology
. Dec2022, Vol. 145 Issue 12, p4232-4245. 14p.
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7 . Academic Journal
Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome.
저자
by
Ahimaz, Priyanka
;
Kramer, Tamar
;
Swaroop, Pooja
;
Mitchell, McKenzie
;
Hernan, Rebecca
, et al.
소스
American Journal of Medical Genetics. Part A; Nov2022, Vol. 188 Issue 11, p3172-3183, 12p
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