Suchergebnisse - "Megarbane, Andre"

PubPharm (20)

1

Accelerated epigenetic aging and DNA methylation alterations in Berardinelli-Seip congenital lipodystrophy

enthalten in: Human molecular genetics | 2023

von Qannan, A. | Bejaoui, Y. | Izadi, M. | +11

2

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von van Jaarsveld, R. | Reilly, J. | Cornips, M. | +56

3

DNA methylation signatures in Blood DNA of Hutchinson-Gilford Progeria syndrome

enthalten in: Aging cell | 2022

von Bejaoui, Y. | Razzaq, A. | Yousri, N. | +10

CommentIn: Aging (Albany NY). 2023 Aug 5;15(15):7336-7337. - PMID 37552095

4

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

enthalten in: Human mutation | 2019

von Laitman, Y. | Friebel, T. | Yannoukakos, D. | +33

5

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

enthalten in: Annals of neurology | 2019

von Pareyson, D. | Stojkovic, T. | Reilly, M. | +39

6

Cornelia de Lange syndrome in diverse populations

enthalten in: American journal of medical genetics. Part A | 2019

von Dowsett, L. | Porras, A. | Kruszka, P. | +62

7

Vibratory Urticaria Associated with a Missense Variant in ADGRE2

enthalten in: The New England journal of medicine | 2016

von Boyden, S. | Desai, A. | Cruse, G. | +17

CommentIn: N Engl J Med. 2016 Jul 7;375(1):95. - PMID 27406365

8

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

enthalten in: The Journal of allergy and clinical immunology | 2015

von Engelhardt, K. | Gertz, M. | Keles, S. | +54

9

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

enthalten in: Brain : a journal of neurology | 2015

von Jobling, R. | Assoum, M. | Gakh, O. | +20

CommentIn: Brain. 2015 Jun;138(Pt 6):1451-3. - PMID 26013806

10

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

enthalten in: Nature genetics | 2014

von Thauvin-Robinet, C. | Lee, J. | Lopez, E. | +26

CommentIn: Clin Genet. 2015 Apr;87(4):328-9. - PMID 25421854