Suchergebnisse - "Megarbane, Andre"

PubPharm (13)

1

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

enthalten in: Journal of medical genetics | 2022

von Laquerriere, A. | Jaber, D. | Abiusi, E. | +88

2

Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates

enthalten in: Nature genetics | 2022

von Szenker-Ravi, E. | Ott, T. | Khatoo, M. | +38

ErratumIn: Nat Genet. 2022 Jun;54(6):906. - PMID 35304595

3

Fifteen years of research on oral-facial-digital syndromes : from 1 to 16 causal genes

enthalten in: Journal of medical genetics | 2017

von Bruel, A. | Franco, B. | Duffourd, Y. | +49

4

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

enthalten in: Human mutation | 2015

von Vodopiutz, J. | Seidl, R. | Prayer, D. | +20

5

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

enthalten in: The journal of clinical investigation | 2015

von Brehm, A. | Liu, Y. | Sheikh, A. | +40

6

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

enthalten in: American journal of human genetics | 2015

von Alby, C. | Piquand, K. | Huber, C. | +27

7

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

8

1Novel MEFV transcripts in Familial Mediterranean fever patients and controls

enthalten in: BMC medical genetics | 2010

von Medlej-Hashim, M. | Nehme, N. | Chouery, E. | +2

9

Pitfalls of homozygosity mapping : an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

enthalten in: European journal of human genetics : EJHG | 2006

von Laurier, V. | Stoetzel, C. | Muller, J. | +13

10

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

enthalten in: Nature genetics | 2006

von Stoetzel, C. | Laurier, V. | Davis, E. | +33

ErratumIn: Nat Genet. 2006 Jun;38(6):727 Da Silva, Eduardo [corrected to Silva, Eduardo D]