E-LIB Suche - Ergebnisse für: Hamdan, Fadi F.

1

Clinical and functional heterogeneity associated with the d..:

Caron, Véronique ; Chassaing, Nicolas ; Ragge, Nicola...
Genetics in Medicine. 25 (2023) 8 - p. 100856 , 2023

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

2

The role of common genetic variation in presumed monogenic ..:

Campbell, Ciarán ; Leu, Costin ; Feng, Yen-Chen Anne...
eBioMedicine. 81 (2022) - p. 104098 , 2022

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

3

Assessment of burden and segregation profiles of CNVs in pa..:

Moreau, Claudia ; Tremblay, Frédérique ; Wolking, Stefan...
Annals of Clinical and Translational Neurology. 9 (2022) 7 - p. 1050-1058 , 2022

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

4

FBXO28 causes developmental and epileptic encephalopathy wi..:

Schneider, Amy L. ; Myers, Candace T. ; Muir, Alison M....
Epilepsia. 62 (2020) 1 - p. , 2020

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

5

Neurotransmitter trafficking defect in a patient with clath..:

Manti, Filippo ; Nardecchia, Francesca ; Barresi, Sabina...
Parkinsonism & Related Disorders. 61 (2019) - p. 207-210 , 2019

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

6

Re-annotation of 191 developmental and epileptic encephalop..:

Steward, Charles A. ; Roovers, Jolien ; Suner, Marie-Marthe...
npj Genomic Medicine. 4 (2019) 1 - p. , 2019

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

7

A novel homozygous AP4B1 mutation in two brothers with AP‐4..:

Accogli, Andrea ; Hamdan, Fadi F. ; Poulin, Chantal...
American Journal of Medical Genetics Part A. 176 (2018) 4 - p. 985-991 , 2018

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

8

Genomic study of severe fetal anomalies and discovery of GR..:

Boissel, Sarah ; Fallet-Bianco, Catherine ; Chitayat, David...
Genetics in Medicine. 20 (2018) 7 - p. 745-753 , 2018

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

9

Global characterization of copy number variants in epilepsy..:

Monlong, Jean ; Girard, Simon L. ; Meloche, Caroline...
PLOS Genetics. 14 (2018) 4 - p. e1007285 , 2018

Link: https://doi.org/10.1371/..

10

Recessive mutations in VPS13D cause childhood onset movemen..:

Gauthier, Julie ; Meijer, Inge A. ; Lessel, Davor...
Annals of Neurology. 83 (2018) 6 - p. 1089-1095 , 2018

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

11

High Rate of Recurrent De Novo Mutations in Developmental a..:

Hamdan, Fadi F. ; Myers, Candace T. ; Cossette, Patrick...
The American Journal of Human Genetics. 101 (2017) 5 - p. 664-685 , 2017

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

12

Heterozygous HNRNPU variants cause early onset epilepsy and..:

Bramswig, Nuria C. ; Lüdecke, Hermann-Josef ; Hamdan, Fadi F....
Human Genetics. 136 (2017) 7 - p. 821-834 , 2017

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

13

Intragenic CNVs for epigenetic regulatory genes in intellec..:

Zahir, Farah R. ; Tucker, Tracy ; Mayo, Sonia...
American Journal of Medical Genetics Part A. 170 (2016) 11 - p. 2916-2926 , 2016

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

14

A de novo frameshift mutation in chromodomain helicase DNA‐..:

Merner, Nancy ; Forgeot d'Arc, Baudouin ; Bell, Scott C....
American Journal of Medical Genetics Part A. 170 (2016) 5 - p. 1225-1235 , 2016

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

15

Decrease of SYNGAP1 in GABAergic cells impairs inhibitory s..:

Berryer, Martin H. ; Chattopadhyaya, Bidisha ; Xing, Paul...
Nature Communications. 7 (2016) 1 - p. , 2016

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