E-LIB Suche - Ergebnisse für: Leroy, Jules G.

1

Personal journeys to and in human genetics and dysmorpholog:

Schwartz, Charles E. ; Aylsworth, Arthur S. ; Allanson, Judith...
American Journal of Medical Genetics Part A. 194 (2024) 6 - p. , 2024

Link: https://doi.org/10.1002/..

2

Two unrelated patients with autosomal dominant omodysplasia..:

Warren, Hannah E. ; Louie, Raymond J. ; Friez, Michael J....
Clinical Case Reports. 6 (2018) 11 - p. 2252-2255 , 2018

Link: https://doi.org/10.1002/..

3

New observation of sialuria prompts detection of liver tumo..:

Champaigne, Neena L. ; Leroy, Jules G. ; Kishnani, Priya S....
Molecular Genetics and Metabolism. 118 (2016) 2 - p. 92-99 , 2016

Link: https://doi.org/10.1016/..

4

Novel microdeletions on chromosome 14q32.2 suggest a potent..:

van der Werf, Ilse M ; Buiting, Karin ; Czeschik, Christina...
European Journal of Human Genetics. 24 (2016) 12 - p. 1724-1729 , 2016

Link: https://doi.org/10.1038/..

5

Long‐term observation of a patient with dominant omodysplas..:

Gordon, Barbara L. ; Champaigne, Neena L. ; Rogers, R. Curtis..
American Journal of Medical Genetics Part A. 164 (2014) 5 - p. 1234-1238 , 2014

Link: https://doi.org/10.1002/..

6

Oligosaccharidoses:

, In: Emery and Rimoin's Principles and Practice of Medical Genetics,

Leroy, Jules G - p. 1-51 , 2013

Link: https://doi.org/10.1016/..

7

Pontocerebellar Hypoplasia: Review of Classification and Ge..:

Maricich, Stephen M. ; Aqeeb, Kaashif A. ; Moayedi, Yalda...
Journal of Child Neurology. 26 (2011) 3 - p. 288-294 , 2011

Link: https://doi.org/10.1177/..

8

Mesomelic dysplasia with acral synostoses Verloes–David–Pfe..:

Isidor, Bertrand ; Hamel, Antoine ; Plasschaert, Frank...
American Journal of Medical Genetics Part A. 149A (2009) 10 - p. 2220-2225 , 2009

Link: https://doi.org/10.1002/..

9

Molecular order in mucolipidosis II and III nomenclature:

Cathey, Sara S. ; Kudo, Mariko ; Tiede, Stephan...
American Journal of Medical Genetics Part A. 146A (2008) 4 - p. 512-513 , 2008

Link: https://doi.org/10.1002/..

10

Detection of subtle reciprocal translocations by fluorescen..:

Speleman, Frank ; Roy, Nadine ; Wlegant, Joop...
Clinical Genetics. 41 (2008) 4 - p. 169-174 , 2008

Link: https://doi.org/10.1111/..

11

Congenital pontocerebellar atrophy and telencephalic defect..:

Leroy, Jules G. ; Lyon, Gilles ; Fallet, Catherine...
Acta Neuropathologica. 114 (2007) 4 - p. 387-399 , 2007

Link: https://doi.org/10.1007/..

12

Acanthosis nigricans in a child with mild osteochondrodyspl..:

Leroy, Jules G. ; Nuytinck, Lieve ; Lambert, Jo..
American Journal of Medical Genetics Part A. 143A (2007) 24 - p. 3144-3149 , 2007

Link: https://doi.org/10.1002/..

13

Mutations in different components of FGF signaling in LADD ..:

Rohmann, Edyta ; Brunner, Han G ; Kayserili, Hülya...
Nature Genetics. 38 (2006) 4 - p. 414-417 , 2006

Link: https://doi.org/10.1038/..

14

Erratum: Mutations in different components of FGF signaling..:

Rohmann, Edyta ; Brunner, Han G ; Kayserili, Hülya...
Nature Genetics. 38 (2006) 4 - p. 495-495 , 2006

Link: https://doi.org/10.1038/..

15

RMRP mutations in cartilage‐hair hypoplasia:

Hermanns, Pia ; Tran, Alyssa ; Munivez, Elda...
American Journal of Medical Genetics Part A. 140A (2006) 19 - p. 2121-2130 , 2006

Link: https://doi.org/10.1002/..