E-LIB Suche - Ergebnisse für: Quelin, Chloe

1

Extending the clinical spectrum of X-linked Tonne-Kalscheue..:

Cuinat, Silvestre ; Quélin, Chloé ; Effray, Claire...
Journal of Medical Genetics. 61 (2024) 9 - p. 824-832 , 2024

Link: https://doi.org/10.1136/..

2

Prenatal exome sequencing, a powerful tool for improving th..:

Thauvin‐Robinet, Christel ; Garde, Aurore ; Delanne, Julian...
Prenatal Diagnosis. 44 (2024) 10 - p. 1179-1197 , 2024

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

3

Multiple congenital anomalies in two fetuses with glutathio..:

Jury, Jeanne ; Benoist, Jean‐François ; Joubert, Madeleine...
Clinical Genetics. , 2024

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

4

O07: Haploinsufficiency of EIF3A and EIF3B cause a clinical..:

Somerville, Cherith ; Erkut, Ersa ; Schwartz, Marci...
Genetics in Medicine Open. 2 (2024) - p. 101469 , 2024

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

5

Clinical phenotype of the PIK3R1-related vascular overgrowt..:

Kuentz, Paul ; Engel, Camille ; Laeng, Mathieu...
British Journal of Dermatology. , 2024

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

6

DISP1 deficiency: Monoallelic and biallelic variants cause ..:

Lavillaureix, Alinoë ; Rollier, Paul ; Kim, Artem...
Genetics in Medicine. 26 (2024) 7 - p. 101126 , 2024

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

7

PHGDH-related microcephalic dwarfism in two fetuses: Expand..:

Cuinat, Silvestre ; Quélin, Chloé ; Pasquier, Laurent...
European Journal of Medical Genetics. 66 (2023) 11 - p. 104852 , 2023

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

8

LHX2 haploinsufficiency causes a variable neurodevelopmenta..:

Schmid, Cosima M. ; Gregor, Anne ; Costain, Gregory...
Genetics in Medicine. 25 (2023) 7 - p. 100839 , 2023

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

9

Gain-of-function MYCN causes a megalencephaly-polydactyly s..:

Nishio, Yosuke ; Kato, Kohji ; Tran Mau-Them, Frederic...
Human Genetics and Genomics Advances. 4 (2023) 4 - p. 100238 , 2023

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

10

Antenatal ultrasound features of isolated recurrent copy nu..:

Courdier, Cécile ; Boudjarane, John ; Malan, Valérie...
Prenatal Diagnosis. 43 (2023) 6 - p. 734-745 , 2023

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

11

CDK13-related disorder: Report of a series of 18 previously..:

Rouxel, Flavien ; Relator, Raissa ; Kerkhof, Jennifer...
Genetics in Medicine. 24 (2022) 5 - p. 1096-1107 , 2022

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

12

Phénotype prénatal des microduplications 22q11 : descriptio..:

Mary, Laura ; Lavillaureix, Alinoë ; Perrot, Adélie...
Morphologie. 106 (2022) 354 - p. S19 , 2022

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

13

Prenatal phenotype of 22q11 micro-duplications: A systemati..:

Mary, Laura ; Lavillaureix, Alinoë ; Perrot, Adélie...
European Journal of Medical Genetics. 65 (2022) 2 - p. 104422 , 2022

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

14

Impaired catabolism of free oligosaccharides due to MAN2C1 ..:

Maia, Nuno ; Potelle, Sven ; Yildirim, Hamide...
The American Journal of Human Genetics. 109 (2022) 2 - p. 345-360 , 2022

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

15

Fetal Description of the Pancreatic Agenesis and Holoprosen..:

Cospain, Auriane ; Faoucher, Marie ; Cauchois, Aurélie...
Pediatric and Developmental Pathology. 25 (2022) 5 - p. 548-552 , 2022

Link: https://doi.org/10.1177/..