E-LIB Suche - Ergebnisse für: McCarrier, Julie

1

The impact of clinical genome sequencing in a global popula..:

Thorpe, Erin ; Williams, Taylor ; Shaw, Chad...
The American Journal of Human Genetics. 111 (2024) 7 - p. 1271-1281 , 2024

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

2

Novel Genetic Diagnoses in Septo-Optic Dysplasia:

Reis, Linda M. ; Seese, Sarah ; Maheshwari, Mohit...
Genes. 13 (2022) 7 - p. 1165 , 2022

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

3

Missense variant contribution to USP9X-female syndrome:

Jolly, Lachlan A. ; Parnell, Euan ; Gardner, Alison E....
npj Genomic Medicine. 5 (2020) 1 - p. , 2020

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

4

Compound heterozygous splicing CDON variants result in isol..:

Reis, Linda M. ; Basel, Donald ; McCarrier, Julie..
Clinical Genetics. 98 (2020) 5 - p. 486-492 , 2020

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

5

Genetic variants in DGAT1 cause diverse clinical presentati..:

Gupta, Aditi ; Dsouza, Nikita R. ; Zarate, Yuri A....
European Journal of Medical Genetics. 63 (2020) 4 - p. 103817 , 2020

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

6

Biallelic variants in AGMO with diminished enzyme activity ..:

Okur, Volkan ; Watschinger, Katrin ; Niyazov, Dmitriy...
Human Genetics. 138 (2019) 11-12 - p. 1259-1266 , 2019

Link: https://doi.org/10.1007/..

7

Severe Neonatal RYR1 Myopathy With Pathological Features of..:

Helbling, Daniel C ; Mendoza, David ; McCarrier, Julie...
Journal of Neuropathology & Experimental Neurology. 78 (2019) 3 - p. 283-287 , 2019

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

8

Ending a Diagnostic Odyssey:

Basel, Donald ; McCarrier, Julie
Pediatric Clinics of North America. 64 (2017) 1 - p. 265-272 , 2017

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

9

Concomitant 11p15.4‐p15.5 duplication and terminal 22q13.33..:

Peterson, Jess F. ; Bick, David P. ; Geddes, Gabrielle C....
American Journal of Medical Genetics Part A. 170 (2016) 12 - p. 3348-3351 , 2016

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

10

Skip segment Hirschsprung disease and Waardenburg syndrome:

Gross, Erica R. ; Geddes, Gabrielle C. ; McCarrier, Julie A...
Journal of Pediatric Surgery Case Reports. 3 (2015) 4 - p. 143-145 , 2015

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

11

Turner syndrome phenotype with 47,XXX karyotype: Further in..:

Wallerstein, Robert ; Musen, Erica ; McCarrier, Julie...
American Journal of Medical Genetics Part A. 125A (2003) 1 - p. 106-107 , 2003

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

12

Novel Genetic Diagnoses in Septo-Optic Dysplasia:

Reis, Linda M ; Seese, Sarah ; Maheshwari, Mohit...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9320703/. , 2022

Link: http://www.ncbi.nlm.nih...

13

Compound heterozygous splicing CDON variants result in isol..:

Reis, Linda M ; Basel, Donald ; McCarrier, Julie..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8341436/. , 2020

Link: http://www.ncbi.nlm.nih...

14

Missense variant contribution to USP9X-female syndrome:

Jolly, Lachlan A ; Parnell, Euan ; Gardner, Alison E...
info:eu-repo/semantics/altIdentifier/pmid/33298948. , 2020

Link: http://hdl.handle.net/23..

15

Missense variant contribution to USP9X-female syndrome:

Jolly, Lachlan A ; Parnell, Euan ; Gardner, Alison E...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7725775/. , 2020

Link: http://www.ncbi.nlm.nih...