E-LIB Suche - Ergebnisse für: Mirzaa, Ghayda

1

P193: Inpatient genetics consults for nondysmorphic childre..:

Keefe, Alexandra ; Scott, Abbey ; Kruidenier, Lukas...
Genetics in Medicine Open. 2 (2024) - p. 101090 , 2024

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

2

P487: Increasing access to precise genetic diagnoses for in..:

Scott, Abbey ; Kruidenier, Lukas ; Sikes, Megan...
Genetics in Medicine Open. 2 (2024) - p. 101386 , 2024

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

3

Protein interaction network analysis of mTOR signaling reve..:

Wehle, Devin T. ; Bass, Carter S. ; Sulc, Josef..
Journal of Biological Chemistry. 299 (2023) 11 - p. 105271 , 2023

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

4

Dominant‐negative variant in SLC1A4 causes an autosomal dom..:

Pujol‐Giménez, Jonai ; Mirzaa, Ghayda ; Blue, Elizabeth E....
Annals of Clinical and Translational Neurology. 10 (2023) 6 - p. 1046-1053 , 2023

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

5

P438: Clinical RNA sequencing to clarify variants of uncert..:

Cech, Jennifer ; Miller, Danny ; Paschal, Cate...
Genetics in Medicine Open. 1 (2023) 1 - p. 100485 , 2023

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

6

Pulmonary Vein Stenosis Associated with Germline PIK3CA Mut..:

Yung, Delphine ; Freeman, Kaitlyn ; Mirzaa, Ghayda
Children. 9 (2022) 5 - p. 671 , 2022

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

7

The ClinGen Brain Malformation Variant Curation Expert Pane..:

Lai, Abbe ; Soucy, Aubrie ; El Achkar, Christelle Moufawad...
Genetics in Medicine. 24 (2022) 11 - p. 2240-2248 , 2022

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

8

Six new cases of CRB2‐related syndrome and a review of clin..:

Adutwum, Michelle ; Hurst, Anna ; Mirzaa, Ghayda...
Clinical Genetics. 103 (2022) 1 - p. 97-102 , 2022

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

9

eP098: Exome sequencing of >500 individuals with brain malf..:

Chen, Wei-Liang ; Timms, Andrew ; Pao, Emily...
Genetics in Medicine. 24 (2022) 3 - p. S64-S65 , 2022

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

10

Regulation of Liprin-α phase separation by CASK is disrupte..:

Tibbe, Debora ; Ferle, Pia ; Krisp, Christoph...
Life Science Alliance. 5 (2022) 10 - p. e202201512 , 2022

Link: https://doi.org/10.26508..

11

eP097: The utility of CSF-derived cell free DNA in molecula..:

Chen, Wei-Liang ; Timms, Andrew ; Pao, Emily...
Genetics in Medicine. 24 (2022) 3 - p. S63-S64 , 2022

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

12

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neuro..:

Chai, Guoliang ; Webb, Alice ; Li, Chen...
Neuron. 109 (2021) 2 - p. 241-256.e9 , 2021

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

13

Pathogenic variants in PIDD1 lead to an autosomal recessive..:

Zaki, Maha S. ; Accogli, Andrea ; Mirzaa, Ghayda...
European Journal of Human Genetics. 29 (2021) 8 - p. 1226-1234 , 2021

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

14

5q35 duplication presents with psychiatric and undergrowth ..:

Quintero-Rivera, Fabiola ; Eno, Celeste C. ; Sutanto, Christine...
Human Genetics. 140 (2021) 4 - p. 681-690 , 2021

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

15

Microcephaly in an Afro-Caribbean individual with an appare..:

Idries, Mohamed ; Donald, Tyhiesia ; Bhoj, Elizabeth...
Molecular Genetics and Metabolism. 132 (2021) - p. S147-S148 , 2021

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