E-LIB Suche - Ergebnisse für: Posey, Jennifer E.

1

Decoding complex inherited phenotypes in rare disorders: th..:

Poli, M. Cecilia ; Rebolledo-Jaramillo, Boris ; Lagos, Catalina...
European Journal of Human Genetics. , 2024

Link: https://doi.org/10.1038/..

2

Exome sequencing implicates ancestry-related Mendelian vari..:

Copeland, Ian ; Wonkam-Tingang, Edmond ; Gupta-Malhotra, Monesha...
JCI Insight. 9 (2024) 9 - p. , 2024

Link: https://doi.org/10.1172/..

3

Human embryonic genetic mosaicism and its effects on develo..:

Waldvogel, Sarah M. ; Posey, Jennifer E. ; Goodell, Margaret A.
Nature Reviews Genetics. , 2024

Link: https://doi.org/10.1038/..

4

Implementing evidence-based assertions of clinical actionab..:

Pak, Christine M. ; Gilmore, Marian J. ; Bulkley, Joanna E....
Genetics in Medicine. 26 (2024) 8 - p. 101164 , 2024

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

5

Expanding the phenotype of PPP1R21‐related neurodevelopment..:

Almannai, Mohammed ; Marafi, Dana ; Zaki, Maha S....
Clinical Genetics. 105 (2024) 6 - p. 620-629 , 2024

Link: https://doi.org/10.1111/..

6

The impact of the Turkish population variome on the genomic..:

Coban-Akdemir, Zeynep ; Song, Xiaofei ; Ceballos, Francisco C....
Genetics in Medicine Open. 2 (2024) - p. 101830 , 2024

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

7

NODAL variants are associated with a continuum of lateralit..:

Dardas, Zain ; Fatih, Jawid M. ; Jolly, Angad...
Genome Medicine. 16 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

8

Multilocus pathogenic variants contribute to intrafamilial ..:

Bozkurt-Yozgatli, Tugce ; Pehlivan, Davut ; Gibbs, Richard A....
BMC Medical Genomics. 17 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

9

Novel LSS variants in alopecia and intellectual disability ..:

Elbendary, Hasnaa M. ; Marafi, Dana ; Saad, Ahmed K....
Clinical Genetics. 104 (2023) 3 - p. 344-349 , 2023

Link: https://doi.org/10.1111/..

10

Metabolic individuality: Limitations, challenges, and poten..:

Elsea, Sarah H. ; Posey, Jennifer E.
Cell Metabolism. 35 (2023) 2 - p. 233-235 , 2023

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

11

Biallelic missense variants in COG3 cause a congenital diso..:

Duan, Ruizhi ; Marafi, Dana ; Xia, Zhi‐Jie...
Journal of Inherited Metabolic Disease. 46 (2023) 6 - p. 1195-1205 , 2023

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

12

A biallelic frameshift indel in PPP1R35 as a cause of prima..:

Dawood, Moez ; Akay, Gulsen ; Mitani, Tadahiro...
American Journal of Medical Genetics Part A. 191 (2023) 3 - p. 794-804 , 2023

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

13

HMZDupFinder: a robust computational approach for detecting..:

Du, Haowei ; Dardas, Zain ; Jolly, Angad...
Nucleic Acids Research. 52 (2023) 4 - p. e18-e18 , 2023

Link: https://doi.org/10.1093/..

14

Phenotypic heterogeneity associated with KIF21A: Two new ca..:

Bhola, Priya T. ; Mishra, Radha ; Posey, Jennifer E....
American Journal of Medical Genetics Part A. 194 (2023) 3 - p. , 2023

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

15

Biallelic variants in ADAMTS15 cause a novel form of distal..:

Boschann, Felix ; Cogulu, Ozgur ; Pehlivan, Davut...
Genetics in Medicine. 25 (2023) 5 - p. 100799 , 2023

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