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Deb, Wallid
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1

Protéasomopathies neurodéveloppementales : une nouvelle cla..:

Cuinat, Silvestre ; Bézieau, Stéphane ; Deb, Wallid...
médecine/sciences.  40 (2024)  2 - p. 176-185 , 2024
Link: https://doi.org/10.1051/..
 
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2

Cerebral dural arteriovenous fistulas in patients with PTEN..:

Gerasimenko, Anna ; Mignot, Cyril ; Naggara, Olivier...
Clinical Genetics.  106 (2024)  1 - p. 90-94 , 2024
Link: https://doi.org/10.1111/..
 
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3

Penetrance, variable expressivity and monogenic neurodevelo..:

de Masfrand, Servane ; Cogné, Benjamin ; Nizon, Mathilde...
European Journal of Medical Genetics.  69 (2024)  - p. 104932 , 2024
Link: https://doi.org/10.1016/..
 
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4

PSMD11 loss-of-function variants correlate with a neurobeha..:

Deb, Wallid ; Rosenfelt, Cory ; Vignard, Virginie...
The American Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1016/..
 
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5

Understanding neurodevelopmental proteasomopathies as new r..:

Cuinat, Silvestre ; Bézieau, Stéphane ; Deb, Wallid...
Genes & Diseases.  , 2023
Link: https://doi.org/10.1016/..
 
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6

Loss-of-function variants in SRRM2 cause a neurodevelopment..:

Cuinat, Silvestre ; Nizon, Mathilde ; Isidor, Bertrand...
Genetics in Medicine.  24 (2022)  8 - p. 1774-1780 , 2022
Link: https://doi.org/10.1016/..
 
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7

Rare pathogenic variants in WNK3 cause X-linked intellectua..:

Küry, Sébastien ; Zhang, Jinwei ; Besnard, Thomas...
Genetics in Medicine.  24 (2022)  9 - p. 1941-1951 , 2022
Link: https://doi.org/10.1016/..
 
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8

Rare germline heterozygous missense variants in BRCA1-assoc..:

Küry, Sébastien ; Ebstein, Frédéric ; Mollé, Alice...
The American Journal of Human Genetics.  109 (2022)  2 - p. 361-372 , 2022
Link: https://doi.org/10.1016/..
 
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9

ALG13 X‐linked intellectual disability: New variants, glyco..:

Alsharhan, Hind ; He, Miao ; Edmondson, Andrew C....
Journal of Inherited Metabolic Disease.  44 (2021)  4 - p. 1001-1012 , 2021
Link: https://doi.org/10.1002/..
 
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10

Biallelic pathogenic variants in the lanosterol synthase ge..:

Besnard, Thomas ; Sloboda, Natacha ; Goldenberg, Alice...
Genetics in Medicine.  21 (2019)  9 - p. 2025-2035 , 2019
Link: https://doi.org/10.1038/..
 
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11

Parallel derivation of isogenic human primed and naive indu..:

Kilens, Stéphanie ; Meistermann, Dimitri ; Moreno, Diego...
Nature Communications.  9 (2018)  1 - p. , 2018
Link: https://doi.org/10.1038/..
 
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12

Expanding the phenotype of the X-linked BCOR microphthalmia..:

DDD Study ; Ragge, Nicola ; Isidor, Bertrand...
Human Genetics.  138 (2018)  8-9 - p. 1051-1069 , 2018
Link: https://doi.org/10.1007/..
 
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13

The clinical and molecular spectrum of the KDM6B-related ne..:

Genomics England Research Consortium ; Rots, Dmitrijs ; Jakub, Taryn E...
6.  , 2023
Link: https://trepo.tuni.fi/ha..
 
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14

PSMC3 proteasome subunit variants are associated with neuro..:

Ebstein, Frédéric ; Küry, Sébastien ; Most, Victoria...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10506367/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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15

Understanding neurodevelopmental proteasomopathies as new r..:

Cuinat, Silvestre ; Bézieau, Stéphane ; Deb, Wallid...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gendis.2023.101130.  , 2023
Link: https://nantes-universit..
 
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