E-LIB Suche - Ergebnisse für: Bellus, Gary A.

1

De novo variants in DENND5B cause a neurodevelopmental diso..:

Scala, Marcello ; Tomati, Valeria ; Ferla, Matteo...
The American Journal of Human Genetics. 111 (2024) 3 - p. 529-543 , 2024

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

2

Characterization of PARP6 Function in Knockout Mice and Pat..:

Vermehren-Schmaedick, Anke ; Huang, Jeffrey Y. ; Levinson, Madison...
Cells. 10 (2021) 6 - p. 1289 , 2021

Link: https://doi.org/10.3390/..

3

Automated syndrome diagnosis by three-dimensional facial im..:

Hallgrímsson, Benedikt ; Aponte, J. David ; Katz, David C....
Genetics in Medicine. 22 (2020) 10 - p. 1682-1693 , 2020

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

4

Diagnosis of pili trianguli et canaliculi by frozen section..:

Krenitsky, Amanda ; Dean, Audrey ; DiCarlo, Christina..
Pediatric Dermatology. 37 (2020) 3 - p. 534-536 , 2020

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

5

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup):..:

Gripp, Karen W. ; Baker, Laura ; Robbins, Katherine M....
European Journal of Human Genetics. 28 (2020) 11 - p. 1548-1554 , 2020

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

6

Correction: Expanding the clinical phenotype of individuals..:

Koczkowska, Magdalena ; Callens, Tom ; Gomes, Alicia...
Genetics in Medicine. 21 (2019) 3 - p. 764-765 , 2019

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

7

Expanding the clinical phenotype of individuals with a 3-bp..:

Koczkowska, Magdalena ; Callens, Tom ; Gomes, Alicia...
Genetics in Medicine. 21 (2019) 4 - p. 867-876 , 2019

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

8

Contributors:

, In: Avery's Diseases of the Newborn,

Abman, Steven H. ; Allegaert, Karel ; Arya, Bhawna... - p. vii-xx , 2018

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

9

Skeletal Dysplasias and Heritable Connective Tissue Disorde..:

, In: Avery's Diseases of the Newborn,

Tiller, George E. ; Bellus, Gary A. - p. 1450-1467.e2 , 2018

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

10

Identification of novel candidate disease genes from de nov..:

Gambin, Tomasz ; Yuan, Bo ; Bi, Weimin...
Genome Medicine. 9 (2017) 1 - p. , 2017

Link: https://doi.org/10.1186/..

11

High Incidence of Noonan Syndrome Features Including Short ..:

Rojnueangnit, Kitiwan ; Xie, Jing ; Gomes, Alicia...
Human Mutation. 36 (2015) 11 - p. 1052-1063 , 2015

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

12

Compound heterozygosity for a frame shift mutation and a li..:

Saari, Jonathan ; Lovell, Mark A. ; Yu, Hung‐Chun.
American Journal of Medical Genetics Part A. 167 (2014) 2 - p. 421-427 , 2014

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

13

Early-onset seizures due to mosaic exonic deletions of CDKL..:

Bartnik, Magdalena ; Derwińska, Katarzyna ; Gos, Monika...
Genetics in Medicine. 13 (2011) 5 - p. 447-452 , 2011

Link: https://doi.org/10.1097/..

14

Immunosuppression and sebaceous tumors: A confirmed diagnos..:

Landis, Megan N. ; Davis, Carrie L. ; Bellus, Gary A..
Journal of the American Academy of Dermatology. 65 (2011) 5 - p. 1054-1058.e1 , 2011

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

15

Identical twin sisters with Rubinstein–Taybi syndrome assoc..:

Parsley, Lea ; Bellus, Gary ; Handler, Michael.
American Journal of Medical Genetics Part A. 155 (2011) 11 - p. 2766-2770 , 2011

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