E-LIB Suche - Ergebnisse für: Sobering, Andrew

1

P311: A 7.4 Mb duplication of 6p22.1-22.3 in a cognitively ..:

Sobering, Andrew ; Keesee, Victor ; Amellal, Yasseen...
Genetics in Medicine Open. 1 (2023) 1 - p. 100339 , 2023

Link: https://doi.org/10.1016/..

2

P697: Gauging medical student comfort in the delivery of di..:

Roth, Elizabeth ; Arrizurieta, Gianna ; Hervas, Juan...
Genetics in Medicine Open. 1 (2023) 1 - p. 100769 , 2023

Link: https://doi.org/10.1016/..

3

P312: Expanding the phenotypic description and allelic hete..:

Daniels, Kadesh ; Board, Sarah ; Brown, Courtney...
Genetics in Medicine Open. 1 (2023) 1 - p. 100340 , 2023

Link: https://doi.org/10.1016/..

4

P325: A homozygous novel pathogenic variant in SYNJ1 and it..:

Taylor, Christie ; Maj, Mary ; Landau, Kevin...
Genetics in Medicine Open. 1 (2023) 1 - p. 100353 , 2023

Link: https://doi.org/10.1016/..

5

P154: A truncating variant in RFX7 causing developmental de..:

Dos Santos, Attila ; Sisroe, Talia ; Li, Dong...
Genetics in Medicine Open. 1 (2023) 1 - p. 100183 , 2023

Link: https://doi.org/10.1016/..

6

eP440: Developing medical genetics interest and literacy th..:

Weiler, Tracey ; Shaaban, Sherin ; Sobering, Andrew...
Genetics in Medicine. 24 (2022) 3 - p. S275-S276 , 2022

Link: https://doi.org/10.1016/..

7

Microcephaly in an Afro-Caribbean individual with an appare..:

Idries, Mohamed ; Donald, Tyhiesia ; Bhoj, Elizabeth...
Molecular Genetics and Metabolism. 132 (2021) - p. S147-S148 , 2021

Link: https://doi.org/10.1016/..

8

Expanding the clinical phenotype and variant spectrum assoc..:

Sisroe, Talia ; Santos, Attila Dos ; Rippert, Alyssa L....
American Journal of Medical Genetics Part A. , 2024

Link: https://doi.org/10.1002/..

9

DNA methylation episignature, extension of the clinical fea..:

van der Laan, Liselot ; Karimi, Karim ; Rooney, Kathleen...
Genetics in Medicine. 26 (2024) 3 - p. 101050 , 2024

Link: https://doi.org/10.1016/..

10

Variants in PHF8 cause a spectrum of X-linked neurodevelopm..:

Sobering, Andrew K. ; Bryant, Laura M. ; Li, Dong...
Human Genetics and Genomics Advances. 4 (2023) 1 - p. 100168 , 2023

Link: https://doi.org/10.1016/..

11

Cover:

Maj, Mary ; Taylor, Christie L. ; Landau, Kevin...
Molecular Genetics & Genomic Medicine. 11 (2023) 1 - p. , 2023

Link: https://doi.org/10.1002/..

12

Variants in PHF8 cause a spectrum of X-linked neurodevelopm..:

Sobering, Andrew K. ; Bryant, Laura M. ; Li, Dong...
Human Genetics and Genomics Advances. 3 (2022) 3 - p. 100102 , 2022

Link: https://doi.org/10.1016/..

13

Cover:

Verdi, Giavanna ; Li, Dong ; Elsea, Sarah H....
Molecular Genetics & Genomic Medicine. 10 (2022) 4 - p. , 2022

Link: https://doi.org/10.1002/..

14

A novel SYNJ1 homozygous variant causing developmental and ..:

Maj, Mary ; Taylor, Christie L. ; Landau, Kevin...
Molecular Genetics & Genomic Medicine. 11 (2022) 1 - p. , 2022

Link: https://doi.org/10.1002/..

15

A novel unbalanced translocation between chromosomes 5p and..:

Verdi, Giavanna ; Li, Dong ; Elsea, Sarah H....
Molecular Genetics & Genomic Medicine. 10 (2022) 4 - p. , 2022

Link: https://doi.org/10.1002/..