Suchergebnisse - "Abdel-Hamid, Hoda Z"

PubPharm (7)

1

A homozygous CAP2 pathogenic variant in a neonate presenting with rapidly progressive cardiomyopathy and nemaline rods

enthalten in: American journal of medical genetics. Part A | 2022

von Gurunathan, S. | Sebastian, J. | Baker, J. | +7

2

Clinical Reasoning : A 14-year-old boy with acute weakness, paresthesias, and headache

enthalten in: Neurology | 2020

von Seese, R. | Guillen, D. | Gaesser, J. | +1

3

Combination therapy with nusinersen and AVXS-101 in SMA type 1

enthalten in: Neurology | 2019

von Lee, B. | Collins, E. | Lewis, L. | +5

CommentIn: Neurology. 2019 Oct 1;93(14):613-614. - PMID 31488614

4

MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing

enthalten in: Cold Spring Harbor molecular case studies | 2019

von Marttila, M. | Win, W. | Al-Ghamdi, F. | +3

5

Duchenne muscular dystrophy caused by a novel deep intronic DMD mutation

enthalten in: Muscle & nerve | 2018

von Ginsberg, M. | McCarty, A. | Lacomis, D. | +1

6

Brachium pontis stroke revealing neurofibromatosis type-2

enthalten in: Journal of neuroimaging : official journal of the American Society of Neuroimaging | 2013

von Sreedher, G. | Panigrahy, A. | Ramos-Martínez, S. | +2

7

Genotype-phenotype analysis of 4q deletion syndrome : proposal of a critical region

enthalten in: American journal of medical genetics. Part A | 2012

von Strehle, E. | Yu, L. | Rosenfeld, J. | +20

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