Suchergebnisse - "Amiel, Jeanne"

PubPharm (376)

1

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

enthalten in: Science (New York, N.Y.) | 2024

von Dodd, D. | Mechaussier, S. | Yeyati, P. | +81

2

Exome, genome and incidental findings

enthalten in: Medecine sciences : M/S | 2024

von Amiel, J. | Héron, D. | Isidor, B.

3

Artificial intelligence-based diagnosis in fetal pathology using external ear shapes

enthalten in: Prenatal diagnosis | 2024

von Hennocq, Q. | Garcelon, N. | Bongibault, T. | +12

4

Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Hannes, L. | Atzori, M. | Goldenberg, A. | +26

5

The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome

enthalten in: Proceedings of the National Academy of Sciences of the United States of America | 2024

von Pisan, E. | De Luca, C. | Brancati, F. | +31

6

3q29 duplications : A cohort of 46 patients and a literature review

enthalten in: American journal of medical genetics. Part A | 2024

von Massier, M. | Doco-Fenzy, M. | Egloff, M. | +47

7

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

enthalten in: Nature communications | 2024

von Werren, E. | LaForce, G. | Srivastava, A. | +27

UpdateOf: Res Sq. 2023 Sep 06;:. - PMID 37720017

8

Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome

enthalten in: Scientific reports | 2024

von Hennocq, Q. | Willems, M. | Amiel, J. | +22

9

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature : A series of 20 unreported individuals

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Sabbagh, Q. | Haghshenas, S. | Piard, J. | +63

10

Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome

enthalten in: American journal of human genetics | 2023

von Engal, E. | Oja, K. | Maroofian, R. | +28

UpdateOf: medRxiv. 2023 Jun 27;:. - PMID 37425688

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