Suchergebnisse - "Wheeler, Lawrie"

PubPharm (27)

21

Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese

enthalten in: Genome medicine | 2017

von Gratten, J. | Zhao, Q. | Benyamin, B. | +35

22

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis

enthalten in: Nature communications | 2017

von Benyamin, B. | He, J. | Zhao, Q. | +61

23

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement : Extending the phenotypic spectrum

enthalten in: American journal of medical genetics. Part A | 2017

von McInerney-Leo, A. | Wheeler, L. | Marshall, M. | +6

24

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families

enthalten in: Human mutation | 2016

von McInerney-Leo, A. | Harris, J. | Gattas, M. | +11

CommentIn: Hum Mutat. 2016 Jul;37(7):621. - PMID 27300081

25

Mutations in Known Monogenic High Bone Mass Loci Only Explain a Small Proportion of High Bone Mass Cases

enthalten in: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research | 2016

von Gregson, C. | Wheeler, L. | Hardcastle, S. | +18

26

Mutations in Known Monogenic High Bone Mass Loci Only Explain a Small Proportion of High Bone Mass Cases

enthalten in: Journal of bone and mineral research | 2016

von Gregson, C. | Wheeler, L. | Hardcastle, S. | +18

27

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families

enthalten in: Human mutation | 2016

von McInerney‐Leo, A. | Harris, J. | Gattas, M. | +11