Suchergebnisse - "Holtz, Alexander M"

PubPharm (19)

1

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

enthalten in: American journal of human genetics | 2024

von Shepherdson, J. | Hutchison, K. | Don, D. | +54

2

USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

enthalten in: Life science alliance | 2024

von Koch, I. | Slovik, M. | Zhang, Y. | +26

3

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

enthalten in: Nature communications | 2023

von Gracia-Diaz, C. | Zhou, Y. | Yang, Q. | +118

4

Perspectives of Rare Disease Experts on Newborn Genome Sequencing

enthalten in: JAMA network open | 2023

von Gold, N. | Adelson, S. | Shah, N. | +19

5

An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations

enthalten in: NPJ genomic medicine | 2023

von Flanagan, F. | Holtz, A. | Vargas, S. | +8

6

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling

enthalten in: Genetics in medicine | 18 August 2022

von Holtz, A. | VanCoillie, R. | Vansickle, E. | +45

7

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2022

von Holtz, A. | VanCoillie, R. | Vansickle, E. | +45

8

Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations

enthalten in: European journal of medical genetics | 2020

von Holtz, A. | Harrington, A. | McNamara, E. | +4

9

Acute Liver Failure Secondary to Neuroblastoma Amplified Sequence Deficiency

enthalten in: The Journal of pediatrics | 2017

von Cardenas, V. | DiPaola, F. | Adams, S. | +2

10

Distinct structural requirements for CDON and BOC in the promotion of Hedgehog signaling

enthalten in: Developmental biology | 2015

von Song, J. | Holtz, A. | Pinskey, J. | +1