Suchergebnisse - "Chevarin, Martin"

PubPharm (43)

1

Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

enthalten in: Clinical genetics | 2024

von Engel, C. | Chevarin, M. | Piard, J. | +10

2

Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome

enthalten in: The British journal of dermatology | 2024

von Kuentz, P. | Engel, C. | Laeng, M. | +18

3

Correction : Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

enthalten in: European journal of human genetics : EJHG | 2024

von Wijngaard, R. | Demidov, G. | O'Gorman, L. | +27

ErratumFor: Eur J Hum Genet. 2024 Feb;32(2):200-208. - PMID 37853102

4

Mobile element insertions in rare diseases : a comparative benchmark and reanalysis of 60,000 exome samples

enthalten in: European journal of human genetics : EJHG | 2024

von Wijngaard, R. | Demidov, G. | O'Gorman, L. | +27

ErratumIn: Eur J Hum Genet. 2023 Nov 16;:. - PMID 37973950

5

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies : 3.5% of all positive cases

enthalten in: Journal of medical genetics | 2023

von Racine, C. | Denommé-Pichon, A. | Engel, C. | +104

6

Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum : Impact on screening recommendations

enthalten in: Clinical genetics | 2023

von Faivre, L. | Crépin, J. | Réda, M. | +60

7

A second look at exome sequencing data : detecting mobile elements insertion in a rare disease cohort

enthalten in: European journal of human genetics : EJHG | 2023

von Garret, P. | Chevarin, M. | Vitobello, A. | +17

8

YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von Denommé-Pichon, A. | Collins, S. | Bruel, A. | +31

9

Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism

enthalten in: European journal of medical genetics | 2023

von Di Rocco, F. | Licci, M. | Garde, A. | +7

10

The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles

enthalten in: Oncotarget | 2023

von Chevarin, M. | Alcantara, D. | Albuisson, J. | +22

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