E-LIB Suche - Ergebnisse für: Calame, Daniel G.

1

Biallelic variants in SLC4A10 encoding a sodium-dependent b..:

Maroofian, Reza ; Zamani, Mina ; Kaiyrzhanov, Rauan...
Genetics in Medicine. 26 (2024) 3 - p. 101034 , 2024

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

2

Homozygous missense variants in YKT6 result in loss of func..:

Ma, Mengqi ; Ganapathi, Mythily ; Zheng, Yiming...
Genetics in Medicine. 26 (2024) 7 - p. 101125 , 2024

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

3

Functional genomics and small molecules in mitochondrial ne..:

Calame, Daniel G. ; Emrick, Lisa T.
Neurotherapeutics. 21 (2024) 1 - p. e00316 , 2024

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

4

Optimizing genetic testing strategies for congenital anomal..:

Calame, Daniel G.
European Journal of Human Genetics. , 2024

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

5

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/..

6

Cation leak through the ATP1A3 pump causes spasticity and i..:

Calame, Daniel G ; Moreno Vadillo, Cristina ; Berger, Seth...
Brain. , 2023

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

7

Monoallelic variation in DHX9, the gene encoding the DExH-b..:

Calame, Daniel G. ; Guo, Tianyu ; Wang, Chen...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1394-1413 , 2023

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

8

Broadening the phenotypic and molecular spectrum of FINCA s..:

Sczakiel, Henrike L. ; Zhao, Max ; Wollert-Wulf, Brigitte...
European Journal of Human Genetics. 31 (2023) 8 - p. 905-917 , 2023

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

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

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/..

11

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, e..:

Faqeih, Eissa A. ; Alghamdi, Malak Ali ; Almahroos, Marwa A....
Genetics in Medicine. 25 (2023) 2 - p. 100323 , 2023

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

12

PLS3 missense variants affecting the actin-binding domains ..:

Petit, Florence ; Longoni, Mauro ; Wells, Julie...
The American Journal of Human Genetics. 110 (2023) 10 - p. 1787-1803 , 2023

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

13

Niacin therapy improves outcome and normalizes metabolic ab..:

Manor, Joshua ; Calame, Daniel G. ; Gijavanekar, Charul...
Brain. 145 (2022) 5 - p. e36-e40 , 2022

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

14

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a C..:

Calame, Daniel G. ; Herman, Isabella ; Maroofian, Reza...
Annals of Neurology. 92 (2022) 2 - p. 304-321 , 2022

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

15

Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B ..:

Taşdelen, Elifcan ; Calame, Daniel G. ; Akay, Gulsen...
American Journal of Medical Genetics Part A. 188 (2022) 7 - p. 2153-2161 , 2022

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