E-LIB Suche - Ergebnisse für: ANGLE, BRAD

1

Missense variants in ANKRD11 cause KBG syndrome by impairme..:

de Boer, Elke ; Ockeloen, Charlotte W. ; Kampen, Rosalie A....
Genetics in Medicine. 25 (2023) 11 - p. 100962 , 2023

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

2

Missense variants in ANKRD11 cause KBG syndrome by impairme..:

de Boer, Elke ; Ockeloen, Charlotte W. ; Kampen, Rosalie A....
Genetics in Medicine. 24 (2022) 10 - p. 2051-2064 , 2022

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

3

Evaluation and classification of severity for 176 genes on ..:

Arjunan, Aishwarya ; Bellerose, Holly ; Torres, Raul...
Prenatal Diagnosis. 40 (2020) 10 - p. 1246-1257 , 2020

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

4

Further delineation of Aymé‐Gripp syndrome and use of autom..:

Amudhavalli, Shivarajan M. ; Hanson, Randi ; Angle, Brad..
American Journal of Medical Genetics Part A. 176 (2018) 7 - p. 1648-1656 , 2018

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

5

Early‐life epileptic encephalopathy secondary to SZT2 patho..:

Venkatesan, Charu ; Angle, Brad ; Millichap, John J.
Epileptic Disorders. 18 (2016) 2 - p. 195-200 , 2016

Link: https://doi.org/10.1684/..

6

Whole exome sequencing reveals de novo pathogenic variants ..:

Millan, Francisca ; Cho, Megan T. ; Retterer, Kyle...
American Journal of Medical Genetics Part A. 170 (2016) 7 - p. 1791-1798 , 2016

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

7

A recurrent de novo CTBP1 mutation is associated with devel..:

Beck, David B. ; Cho, Megan T. ; Millan, Francisca...
neurogenetics. 17 (2016) 3 - p. 173-178 , 2016

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

8

Whole exome sequence analysis of Peters anomaly:

Weh, Eric ; Reis, Linda M. ; Happ, Hannah C....
Human Genetics. 133 (2014) 12 - p. 1497-1511 , 2014

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

9

Guanidinoacetate methyltransferase (GAMT) deficiency: Outco..:

Stockler-Ipsiroglu, Sylvia ; van Karnebeek, Clara ; Longo, Nicola...
Molecular Genetics and Metabolism. 111 (2014) 1 - p. 16-25 , 2014

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

10

Mouse model implicatesGNB3duplication in a childhood obesit..:

Goldlust, Ian S. ; Hermetz, Karen E. ; Catalano, Lisa M....
Proceedings of the National Academy of Sciences. 110 (2013) 37 - p. 14990-14994 , 2013

Link: https://doi.org/10.1073/..

11

Mouse model implicates GNB3 duplication in a childhoodobesi..:

Goldlust, Ian S. ; Hermetz, Karen E. ; Catalano, Lisa M....
Proceedings of the National Academy of Sciences of the United States of America. 110 (2013) 37 - p. 14990-14994 , 2013

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

12

A Pilot Newborn Screening Program for Lysosomal Storage Dis..:

Burton, Barbara ; Charrow, Joel ; Angle, Brad..
Molecular Genetics and Metabolism. 105 (2012) 2 - p. S23-S24 , 2012

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

13

Follow-up of patients with short-chain acyl-CoA dehydrogena..:

Pena, Loren ; Angle, Brad ; Burton, Barbara.
Genetics in Medicine. 14 (2012) 3 - p. 342-347 , 2012

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

14

Mutations in PPIB (cyclophilin B) delay type I procollagen ..:

Pyott, Shawna M. ; Schwarze, Ulrike ; Christiansen, Helena E....
Human Molecular Genetics. 20 (2011) 8 - p. 1595-1609 , 2011

Link: https://doi.org/10.1093/..

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/..