Suchergebnisse - "Leo, Paul J"

PubPharm (88)

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

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

23

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

24

NAD Deficiency, Congenital Malformations, and Niacin Supplementation

enthalten in: The New England journal of medicine | 2017

von Shi, H. | Enriquez, A. | Rapadas, M. | +30

CommentIn: Nat Rev Endocrinol. 2017 Oct 11;13(11):630-631. - PMID 29019348

25

Defining the genetic susceptibility to cervical neoplasia-A genome-wide association study

enthalten in: PLoS genetics | 2017

von Leo, P. | Madeleine, M. | Wang, S. | +28

ErratumIn: PLoS Genet. 2018 Mar 1;14 (3):e1007257. - PMID 29494589

26

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

27

The Connecticut Mental Health Center : Celebrating 50 Years of a Successful Partnership Between the State and Yale University

enthalten in: Psychiatric services (Washington, D.C.) | 2016

von Steiner, J. | Anez-Nava, L. | Baranoski, M. | +17

28

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia

enthalten in: Journal of medical genetics | 2016

von McInerney-Leo, A. | Le Goff, C. | Leo, P. | +11

29

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

30

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function

enthalten in: Scientific reports | 2016

von Cortés, C. | McInerney-Leo, A. | Vogel, I. | +10