E-LIB Suche - Ergebnisse für: Sobering, Andrew K.

1

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

2

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/..

3

Cover:

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

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

4

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/..

5

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/..

6

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/..

7

Teaching perspectives on the communication of difficult new..:

Vanasse, Ashley M. ; Weiler, Tracey ; Roth, Elizabeth A....
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 299-305 , 2022

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

8

2022 Association of Professors of Human and Medical Genetic..:

Massingham, Lauren J. ; Nuñez, Sabrina ; Bernstein, Jonathan A....
Genetics in Medicine. 24 (2022) 10 - p. 2167-2179 , 2022

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

9

Cover:

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

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

10

Cover:

Grygiel, Alyssa ; Ikolo, Felicia ; Stephen, Raphielle...
Molecular Genetics & Genomic Medicine. 9 (2021) 1 - p. , 2021

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

11

ALG13 X‐linked intellectual disability: New variants, glyco..:

Alsharhan, Hind ; He, Miao ; Edmondson, Andrew C....
Journal of Inherited Metabolic Disease. 44 (2021) 4 - p. 1001-1012 , 2021

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

12

Application of exome sequencing to diagnose a novel present..:

Thompson, Wayne ; Carey, Patrick Z. ; Donald, Tyhiesia...
Molecular Genetics & Genomic Medicine. 8 (2020) 8 - p. , 2020

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

13

Down syndrome on a small Caribbean island: an uphill battle..:

Nelson, Beverly ; Lanza‐Perea, Marta ; Brathwaite, Jozan...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184 (2020) 4 - p. 965-969 , 2020

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

14

Experiences with offering pro bono medical genetics service..:

Sobering, Andrew K. ; Li, Dong ; Beighley, Jennifer S....
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184 (2020) 4 - p. 1030-1041 , 2020

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

15

A homozygous truncatingNALCNvariant in twoAfro‐Caribbeansib..:

Ope, Omotayo ; Bhoj, Elizabeth J. ; Nelson, Beverly...
American Journal of Medical Genetics Part A. 182 (2020) 8 - p. 1877-1880 , 2020

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