E-LIB Suche - Ergebnisse für: Ranza, Emmanuelle

1

Hyper‐IgE syndrome presenting with early life craniosynosto..:

Peirolo, Anna ; Verolet, Charlotte ; Ranza, Emmanuelle...
Pediatric Allergy and Immunology. 34 (2023) 4 - p. , 2023

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

2

FOXI3 pathogenic variants cause one form of craniofacial mi..:

Mao, Ke ; Borel, Christelle ; Ansar, Muhammad...
Nature Communications. 14 (2023) 1 - p. , 2023

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

3

GABBR1 monoallelic de novo variants linked to neurodevelopm..:

Cediel, Maria Lucia ; Stawarski, Michal ; Blanc, Xavier...
The American Journal of Human Genetics. 109 (2022) 10 - p. 1885-1893 , 2022

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

4

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/..

5

Retrospective evaluation of clinical and molecular data of ..:

Ranza, Emmanuelle ; Le Gouez, Morgane ; Guimier, Anne...
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 77-83 , 2022

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

6

CoverageMaster: comprehensive CNV detection and visualizati..:

Rapti, Melivoia ; Zouaghi, Yassine ; Meylan, Jenny...
Briefings in Bioinformatics. 23 (2022) 2 - p. , 2022

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

7

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/..

8

Childhood-Onset Movement Disorders Can Mask a Primary Immun..:

Blanchard-Rohner, Geraldine ; Peirolo, Anna ; Coulon, Ludivine...
Frontiers in Immunology. 13 (2022) - p. , 2022

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

9

Benefits of Exome Sequencing in Children with Suspected Iso..:

Van Heurck, Roxane ; Carminho-Rodrigues, Maria Teresa ; Ranza, Emmanuelle...
Genes. 12 (2021) 8 - p. 1277 , 2021

Link: https://doi.org/10.3390/..

10

Case Report: Persistent Hypogammaglobulinemia More Than 10 ..:

Luterbacher, Fanny ; Bernard, Fanette ; Baleydier, Frédéric...
Frontiers in Immunology. 12 (2021) - p. , 2021

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

11

Correction to: Hyperinsulinism associated with GLUD1 mutati..:

Luczkowska, Karolina ; Stekelenburg, Caroline ; Sloan-Béna, Frédérique...
Human Genomics. 15 (2021) 1 - p. , 2021

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

12

De novo variants inCELF2that disrupt the nuclear localizati..:

Itai, Toshiyuki ; Hamanaka, Kohei ; Sasaki, Kazunori...
Human Mutation. 42 (2020) 1 - p. 66-76 , 2020

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

13

Biallelic variants in PSMB1 encoding the proteasome subunit..:

Antonarakis, Stylianos E ; Bachmann-Gagescu, Ruxandra ; Krüger, Elke...
Human Molecular Genetics. 29 (2020) 7 - p. 1132-1143 , 2020

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

14

Hyperinsulinism associated with GLUD1 mutation: allosteric ..:

Luczkowska, Karolina ; Stekelenburg, Caroline ; Sloan-Béna, Frédérique...
Human Genomics. 14 (2020) 1 - p. , 2020

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

15

Overlapping phenotypes between SHORT and Noonan syndromes i..:

Ranza, Emmanuelle ; Guimier, Anne ; Verloes, Alain...
Clinical Genetics. 98 (2020) 1 - p. 10-18 , 2020

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