E-LIB Suche - Ergebnisse für: Lebel, Robert Roger

1

CASK pathogenic variant which expands the clinical spectrum..:

Tellerday, Jack ; Black, Jennifer ; Schuessler, Donald C....
American Journal of Medical Genetics Part A. , 2024

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

2

TREX tetramer disruption alters RNA processing necessary fo..:

Werren, Elizabeth A. ; LaForce, Geneva R. ; Srivastava, Anshika...
Nature Communications. 15 (2024) 1 - p. , 2024

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

3

eP184: Novel KCNA1 pathogenic variant associated syndrome o..:

Major, Lauren ; Lebel, Robert Roger ; Rothman, Steven.
Genetics in Medicine. 24 (2022) 3 - p. S114 , 2022

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

4

Clinical delineation, sex differences, and genotype–phenoty..:

Faundes, Víctor ; Goh, Stephanie ; Akilapa, Rhoda...
Genetics in Medicine. 23 (2021) 7 - p. 1202-1210 , 2021

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

5

KDM5C gene variant and non-syndromic X-linked intellectual ..:

Mohrien, Casey ; Schwartz, Charles ; Friez, Michael..
Molecular Genetics and Metabolism. 132 (2021) - p. S195 , 2021

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

6

In-frame deletion in SPOP leads to Nabais Sa-de Vries syndr..:

Ramos, Leona ; Byler, Melissa ; Gupta, Shiphali...
Molecular Genetics and Metabolism. 132 (2021) - p. S73 , 2021

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

7

Opinion and Special Articles: Cerebellar Ataxia and Liver F..:

Rim, Joshua ; Byler, Melissa ; Soldatos, Ariane...
Neurology. 96 (2021) 6 - p. , 2021

Link: https://doi.org/10.1212/..

8

Expanding the molecular spectrum and the neurological pheno..:

Jacobs, Eva Z. ; Brown, Kathleen ; Byler, Melissa C....
Clinical Genetics. 99 (2020) 2 - p. 259-268 , 2020

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

9

It Runs in the Family:

, In: Bioethics, Public Health, and the Social Sciences for the Medical Professions,

Lebel, Robert Roger - p. 315-332 , 2019

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

10

50 Years Ago in T J P:

Lebel, Robert Roger
The Journal of Pediatrics. 192 (2018) - p. 129 , 2018

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

11

Two cases of Legg–Perthes and intellectual disability in Tr..:

Gilman, Jordana L. ; Newman, Heather A. ; Freeman, Rebecca...
American Journal of Medical Genetics Part A. 173 (2017) 6 - p. 1663-1667 , 2017

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

12

The complex behavioral phenotype of 15q13.3 microdeletion s..:

Ziats, Mark N. ; Goin-Kochel, Robin P. ; Berry, Leandra N....
Genetics in Medicine. 18 (2016) 11 - p. 1111-1118 , 2016

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

13

To the Editor:

Lebel, Robert Roger
Hastings Center Report. 41 (2011) 3 - p. 6-7 , 2011

Link: https://doi.org/10.1353/..

14

That Personal Touch [with reply]:

Caulfield, Timothy ; Laberge, Anne-Marie ; Evans, James P....
The Hastings Center Report. 41 (2011) 3 - p. 4-8 , 2011

Link: https://www.jstor.org/st..

15

Distinctive phenotype in 9 patients with deletion of chromo..:

Burkardt, Deepika D'Cunha ; Rosenfeld, Jill A. ; Helgeson, Maria L....
American Journal of Medical Genetics Part A. 155 (2011) 6 - p. 1336-1351 , 2011

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