E-LIB Suche - Ergebnisse für: Margot, Henri

1

Autoimmune cytopenia and Kabuki syndrome in paediatrics: In..:

Bianchi, Chloé ; Margot, Henri ; Fernandes, Helder...
British Journal of Haematology. , 2024

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

2

De novo and inherited monoallelic variants in TUBA4A cause ..:

Benkirane, Mehdi ; Bonhomme, Marion ; Morsy, Heba...
Brain. , 2024

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

3

De novo variants predicting haploinsufficiency for DIP2C ar..:

Ha, Thoa ; Morgan, Angela ; Bartos, Meghan N....
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024

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

4

Investigations of an individual with a Marfanoid habitus, m..:

Margot, Henri ; Pizano, Adrien ; Amestoy, Anouck...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. , 2024

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

5

Case report: Compound heterozygous NUP85 variants cause aut..:

Ravindran, Ethiraj ; Lesca, Gaetan ; Januel, Louis...
Frontiers in Neurology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

6

Phenotypic characterization of seven individuals with Marba..:

Marbach, Felix ; Lipska‐Ziętkiewicz, Beata S. ; Knurowska, Agata...
American Journal of Medical Genetics Part A. 188 (2022) 9 - p. 2627-2636 , 2022

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

7

Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) su..:

Lines, Matthew A. ; Goldenberg, Paula ; Wong, Ashley...
American Journal of Medical Genetics Part A. 188 (2022) 6 - p. 1667-1675 , 2022

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

8

Prostate cancer and PARP inhibitors: progress and challenge:

Teyssonneau, Diego ; Margot, Henri ; Cabart, Mathilde...
Journal of Hematology & Oncology. 14 (2021) 1 - p. , 2021

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

9

Immunopathological manifestations in Kabuki syndrome: a reg..:

Margot, Henri ; Boursier, Guilaine ; Duflos, Claire...
Genetics in Medicine. 22 (2020) 1 - p. 181-188 , 2020

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

10

Typical facial gestalt in X‐linked Kabuki syndrome:

Margot, Henri ; Geneviève, David ; Gatinois, Vincent...
American Journal of Medical Genetics Part A. 170 (2016) 12 - p. 3363-3364 , 2016

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

11

Case report: Compound heterozygous NUP85 variants cause aut..:

Ravindran, Ethiraj ; Lesca, Gaetan ; Januel, Louis...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9947397/. , 2023

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

12

Case report: Compound heterozygous NUP85 variants cause aut..:

Ravindran, Ethiraj ; Lesca, Gaetan ; Januel, Louis...
https://refubium.fu-berlin.de/handle/fub188/40914. , 2023

Link: https://refubium.fu-berl..

13

Case report: Compound heterozygous NUP85 variants cause aut..:

Ravindran, Ethiraj ; Lesca, Gaetan ; Januel, Louis...
1664-2295. , 2023

Link: https://resolver.sub.uni..

14

Phenotypic characterization of seven individuals with Marba..:

Marbach, Felix ; Lipska-Zietkiewicz, Beata S ; Knurowska, Agata...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.62884. , 2022

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

15

Phenotypic characterization of seven individuals with Marba..:

MARBACH, Felix ; LIPSKA-ZIETKIEWICZ, Beata S ; KNUROWSKA, Agata...
1552-4833 (Electronic) 1552-4825 (Linking). , 2022

Link: https://oskar-bordeaux.f..