E-LIB Suche - Ergebnisse für: Benke, Paul J.

1

P348: De novo missense variants in ZBTB47 cause a neurodeve..:

Ward, Scott ; Burrage, Lindsay ; Rosenfeld, Jill...
Genetics in Medicine Open. 1 (2023) 1 - p. 100376 , 2023

2

HNRNPC haploinsufficiency affects alternative splicing of i..:

Niggl, Eva ; Bouman, Arjan ; Briere, Lauren C....
The American Journal of Human Genetics. 110 (2023) 8 - p. 1414-1435 , 2023

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

3

De novo missense variants in ZBTB47 are associated with dev..:

Ward, Scott K. ; Wadley, Alexandrea ; Tsai, Chun‐hui (Anne)...
American Journal of Medical Genetics Part A. 194 (2023) 1 - p. 17-30 , 2023

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

4

An Integrated Phenotypic and Genotypic Approach Reveals a H..:

Deisseroth, Cole A. ; Lerma, Vanesa C. ; Magyar, Christina L....
Annals of Neurology. 92 (2022) 1 - p. 138-153 , 2022

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

5

Genotype–phenotype correlations and novel molecular insight..:

Mannucci, Ilaria ; Dang, Nghi D. P. ; Huber, Hannes...
Genome Medicine. 13 (2021) 1 - p. , 2021

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

6

Novel variants in KAT6B spectrum of disorders expand our kn..:

Yabumoto, Megan ; Kianmahd, Jessica ; Singh, Meghna...
Molecular Genetics & Genomic Medicine. 9 (2021) 10 - p. , 2021

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

7

Correction: Analyses of oligodontia phenotypes and genetic ..:

Zhou, Mengqi ; Zhang, Hong ; Camhi, Heather...
International Journal of Oral Science. 13 (2021) 1 - p. , 2021

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

8

Analyses of oligodontia phenotypes and genetic etiologies:

Zhou, Mengqi ; Zhang, Hong ; Camhi, Heather...
International Journal of Oral Science. 13 (2021) 1 - p. , 2021

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

9

The clinical and molecular spectrum ofQRICH1associated neur..:

Kumble, Smitha ; Levy, Amanda M. ; Punetha, Jaya...
Human Mutation. 43 (2021) 2 - p. 266-282 , 2021

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

10

Integrated deep phenotypic and mutational approach defines ..:

Deisseroth, Cole ; Nayak, Aarushi ; Bliss, Nathan...
Neurology. 96 (2021) 15_supplement - p. , 2021

Link: https://doi.org/10.1212/..

11

De novo variants in MPP5 cause global developmental delay a..:

Sterling, Noelle ; Duncan, Anna R ; Park, Raehee...
Human Molecular Genetics. 29 (2020) 20 - p. 3388-3401 , 2020

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

12

Novel mutations in the mitochondrial complex I assembly gen..:

Simon, Mariella T. ; Eftekharian, Shaya S. ; Stover, Alexander E....
Molecular Genetics and Metabolism. 126 (2019) 1 - p. 53-63 , 2019

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

13

Biotin and Acetazolamide for Treatment of an Unusual Child ..:

Benke, Paul J. ; Duchowny, Michael ; McKnight, Dianalee
Pediatric Neurology. 79 (2018) - p. 61-64 , 2018

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

14

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplica..:

Su, Meng ; Benke, Paul J. ; Bademci, Guney...
Molecular Cytogenetics. 11 (2018) 1 - p. , 2018

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

15

Disturbed phospholipid metabolism in serine biosynthesis de..:

Glinton, Kevin E. ; Benke, Paul J. ; Lines, Matthew A....
Molecular Genetics and Metabolism. 123 (2018) 3 - p. 309-316 , 2018

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