E-LIB Suche - Ergebnisse für: Weaver, K. Nicole

1

Role of CAMK2D in neurodevelopment and associated condition:

Rigter, Pomme M.F. ; de Konink, Charlotte ; Dunn, Matthew J....
The American Journal of Human Genetics. 111 (2024) 2 - p. 364-382 , 2024

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

2

A distant global control region is essential for normal exp..:

Wilderman, Andrea ; D'haene, Eva ; Baetens, Machteld...
Nature Communications. 15 (2024) 1 - p. , 2024

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

3

Expanding the phenotype of neurofibromatosis type 1 microde..:

Garzon, Jenny P. ; Patete, Andrea ; Aschbacher‐Smith, Lindsey...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. , 2024

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

4

Novel insights into the phenotypic spectrum and pathogenesi..:

Strong, Alanna ; March, Michael E. ; Cardinale, Christopher J....
Genetics in Medicine. , 2024

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

5

Phenotypes and genotypes in a cohort of children with singl..:

Baker, Elizabeth K. ; Shikany, Amy ; Winlaw, David S..
Cardiology in the Young. 34 (2023) 4 - p. 815-821 , 2023

Link: https://doi.org/10.1017/..

6

Prenatal and infantile diagnosis of craniosynostosis in ind..:

Serbinski, Carolyn R. ; Vanderwal, April ; Chadwell, Sarah E....
American Journal of Medical Genetics Part A. 194 (2023) 2 - p. 195-202 , 2023

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

7

Using deep learning and electronic health records to detect..:

Yang, Zeyu ; Shikany, Amy ; Ni, Yizhao...
Genetics in Medicine. 24 (2022) 11 - p. 2329-2337 , 2022

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

8

Stx4 is required to regulate cardiomyocyte Ca2+ handling du..:

Perl, Eliyahu ; Ravisankar, Padmapriyadarshini ; Beerens, Manu E....
Human Genetics and Genomics Advances. 3 (2022) 3 - p. 100115 , 2022

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

9

Central nervous system involvement in individuals withRASop..:

Weaver, K. Nicole ; Gripp, Karen W.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 190 (2022) 4 - p. 494-500 , 2022

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

10

Further expansion and confirmation of phenotype in rare los..:

Baker, Elizabeth K. ; Brewer, Casey J. ; Ferreira, Leonardo...
American Journal of Medical Genetics Part A. 191 (2022) 2 - p. 526-539 , 2022

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

11

Genetic and phenotypic heterogeneity in KIAA0753‐related ci..:

Inskeep, Katherine A. ; Zarate, Yuri A. ; Monteil, Danielle...
American Journal of Medical Genetics Part A. 188 (2021) 1 - p. 104-115 , 2021

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

12

Craniosynostosis is a feature of Costello syndrome:

Weaver, K. Nicole ; Care, Marguerite ; Wakefield, Emily...
American Journal of Medical Genetics Part A. 188 (2021) 4 - p. 1280-1286 , 2021

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

13

POLRMT mutations impair mitochondrial transcription causing..:

Oláhová, Monika ; Peter, Bradley ; Szilagyi, Zsolt...
Nature Communications. 12 (2021) 1 - p. , 2021

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

14

Robin sequence without cleft palate: Genetic diagnoses and ..:

Weaver, K. Nicole ; Sullivan, Bonnie R. ; Balow, Stephanie A....
American Journal of Medical Genetics Part A. 188 (2021) 1 - p. 160-177 , 2021

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

15

Mandibulofacial dysostosis with microcephaly: An expansion ..:

Abell, Katherine ; Hopkin, Robert J. ; Bender, Patricia L....
American Journal of Medical Genetics Part A. 185 (2020) 2 - p. 413-423 , 2020

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