E-LIB Suche - Ergebnisse für: Bassetti, Jennifer A.

1

Vignette of a Child with Developmental Regression, Seizures..:

Radmard, Sara ; Bassetti, Jennifer A. ; Mandel, Arthur M..
Movement Disorders Clinical Practice. , 2024

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

2

Fanconi-Bickel syndrome complicated by nephrocalcinosis and..:

Baqai, Kanza ; Bassetti, Jennifer A. ; Kovanlikaya, Arzu..
Pediatric Nephrology. , 2024

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

3

Expanding SPTAN1 monoallelic variant associated disorders: ..:

Morsy, Heba ; Benkirane, Mehdi ; Cali, Elisa...
Genetics in Medicine. 25 (2023) 1 - p. 76-89 , 2023

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

4

Heterozygous variants in CTR9, which encodes a major compon..:

Meuwissen, Marije ; Verstraeten, Aline ; Ranza, Emmanuelle...
Genetics in Medicine. 24 (2022) 7 - p. 1583-1591 , 2022

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

5

TheMAP3K7gene: Further delineation of clinical characterist..:

van Woerden, Geeske M. ; Senden, Richelle ; de Konink, Charlotte...
Human Mutation. 43 (2022) 10 - p. 1377-1395 , 2022

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

6

De novo variants in CACNA1E found in patients with intellec..:

Royer-Bertrand, Beryl ; Jequier Gygax, Marine ; Cisarova, Katarina...
Molecular Autism. 12 (2021) 1 - p. , 2021

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

7

Expanding the genotypic and phenotypic spectrum in a divers..:

Sheppard, Sarah ; Campbell, Ian ; Harr, Margaret...
Molecular Genetics and Metabolism. 132 (2021) - p. S183 , 2021

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

8

Expanding the genotypic and phenotypic spectrum in a divers..:

Sheppard, Sarah E. ; Campbell, Ian M. ; Harr, Margaret H....
American Journal of Medical Genetics Part A. 185 (2021) 6 - p. 1649-1665 , 2021

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

9

KMT2B-related disorders: expansion of the phenotypic spectr..:

Cif, Laura ; Demailly, Diane ; Lin, Jean-Pierre...
Brain. 143 (2020) 11 - p. 3242-3261 , 2020

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

10

Further delineation of the clinical spectrum of KAT6B disor..:

Zhang, Li Xin ; Lemire, Gabrielle ; Gonzaga-Jauregui, Claudia...
Genetics in Medicine. 22 (2020) 8 - p. 1338-1347 , 2020

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

11

Management of Chronic Immune Thrombocytopenia and Presumed ..:

Groth, Daniel J. ; Lakkaraja, Madhavi M. ; Ferreira, Johanna O....
Journal of Clinical Immunology. 40 (2020) 4 - p. 653-657 , 2020

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

12

Expanding SPTAN1 monoallelic variant associated disorders: ..:

Morsy, Heba ; Benkirane, Mehdi ; Cali, Elisa...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10620943/. , 2023

Link: http://www.ncbi.nlm.nih...

13

Expanding SPTAN1 monoallelic variant associated disorders: ..:

Morsy, Heba ; Benkirane, Mehdi ; Cali, Elisa...
https://discovery.ucl.ac.uk/id/eprint/10158856/1/1-s2.0-S1098360022009509-main.pdf. , 2022

Link: https://discovery.ucl.ac..

14

Expanding SPTAN1 monoallelic variant associated disorders: ..:

Morsy, Heba ; Benkirane, Mehdi ; Cali, Elisa...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.09.013. , 2022

Link: https://hal.science/hal-..

15

Expanding SPTAN1 monoallelic variant associated disorders: ..:

Morsy, Heba ; Benkirane, Mehdi ; Cali, Elisa...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.09.013. , 2022

Link: https://hal.science/hal-..