E-LIB Suche - Ergebnisse für: Carter, Melissa T

1

De novo variants in FRYL are associated with developmental ..:

Pan, Xueyang ; Tao, Alice M. ; Lu, Shenzhao...
The American Journal of Human Genetics. 111 (2024) 4 - p. 742-760 , 2024

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

2

The diagnostic yield of genetic and metabolic investigation..:

Postma, Julianne K. ; Harrison, Mary‐Ann ; Kutcher, Stephen...
American Journal of Medical Genetics Part A. , 2024

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

3

Genetic and metabolic investigations for neurodevelopmental..:

Carter, Melissa T ; Srour, Myriam ; Au, Ping-Yee Billie...
Journal of Medical Genetics. 60 (2023) 6 - p. 523-532 , 2023

Link: https://doi.org/10.1136/..

4

Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental ..:

Gonzalez, Joseph Nicho ; Goldman, Sylvie ; Carter, Melissa T..
Genes. 14 (2023) 6 - p. 1154 , 2023

Link: https://doi.org/10.3390/..

5

Deep phenotyping of the neuroimaging and skeletal features ..:

Peluso, Francesca ; Caraffi, Stefano G ; Contrò, Gianluca...
Journal of Medical Genetics. 60 (2023) 12 - p. 1224-1234 , 2023

Link: https://doi.org/10.1136/..

6

Correction to: Missense mutations in ITPR1 cause autosomal ..:

Huang, Lijia ; Warman-Chardon, Jodi ; Carter, Melissa T....
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

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

7

Further clinical delineation of microcephaly‐capillary malf..:

Postma, Julianne K. ; Zambonin, Jessica L. ; Khouj, Ebtissal...
American Journal of Medical Genetics Part A. 188 (2022) 11 - p. 3350-3357 , 2022

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

8

Neurodevelopmental functioning in probands and non‐proband ..:

Drmic, Irene E. ; MacKinnon Modi, Bonnie ; McConnell, Beth...
American Journal of Medical Genetics Part A. 188 (2022) 10 - p. 2999-3008 , 2022

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

9

Genetic and metabolic investigations for individuals with n..:

Carter, Melissa T. ; Cloutier, Mireille ; Tsampalieros, Anne.
American Journal of Medical Genetics Part A. 185 (2021) 6 - p. 1757-1766 , 2021

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

10

Genome sequencing for detection of pathogenic deep intronic..:

Walker, Susan ; Lamoureux, Sylvia ; Khan, Tayyaba...
American Journal of Medical Genetics Part A. 185 (2021) 10 - p. 3129-3135 , 2021

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

11

Perturbed hematopoiesis in individuals with germline DNMT3A..:

Tovy, Ayala ; Rosas, Carina ; Gaikwad, Amos S....
Haematologica. 107 (2021) 4 - p. 887-898 , 2021

Link: https://doi.org/10.3324/..

12

Tatton‐Brown‐Rahman syndrome: Six individuals with novel fe..:

Balci, Tugce B. ; Strong, Alana ; Kalish, Jennifer M....
American Journal of Medical Genetics Part A. 182 (2020) 4 - p. 673-680 , 2020

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

13

Phenotype and mutation expansion of the PTPN23 associated d..:

Regeneron Genetics Center ; Bend, Renee ; Cohen, Lior...
European Journal of Human Genetics. 28 (2019) 1 - p. 76-87 , 2019

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

14

Compound heterozygous CACNA1H mutations associated with sev..:

Carter, Melissa T. ; McMillan, Hugh J. ; Tomin, Andriy.
Channels. 13 (2019) 1 - p. 153-161 , 2019

Link: https://doi.org/10.1080/..

15

Clinical delineation of GTPBP2‐associated neuro‐ectodermal ..:

Carter, Melissa T. ; Venkateswaran, Sunita ; Shapira‐Zaltsberg, Gali...
Clinical Genetics. 95 (2019) 5 - p. 601-606 , 2019

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