Suchergebnisse - "Perrin, Laurence"

PubPharm (86)

1

Olfactory bulb anomalies in KBG syndrome mouse model and patients

enthalten in: BMC medicine | 2024

von Goodkey, K. | Wischmeijer, A. | Perrin, L. | +9

2

Olfactory bulb anomalies in KBG syndrome mouse model and patients

enthalten in: BMC medicine | 2024

von Goodkey, K. | Wischmeijer, A. | Perrin, L. | +9

3

Suspicion of constitutional abnormality at diagnosis of childhood leukemia : Update of the leukemia committee of the French Society of Childhood Cancers

enthalten in: Bulletin du cancer | 2024

von Strullu, M. | Cousin, E. | de Montgolfier, S. | +12

4

Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome

enthalten in: Clinical genetics | 2024

von Gerasimenko, A. | Mignot, C. | Naggara, O. | +36

5

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

6

Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria

enthalten in: Brain : a journal of neurology | 2024

von Chevrollier, A. | Bonnard, A. | Ruaud, L. | +8

7

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

8

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions

enthalten in: American journal of human genetics | 2023

von Schönauer, R. | Jin, W. | Findeisen, C. | +38

9

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis

enthalten in: Frontiers in genetics | 2023

von Tran Mau-Them, F. | Overs, A. | Bruel, A. | +38

10

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

enthalten in: bioRxiv.org | 2022

von Courraud, J. | Chater-Diehl, E. | Durand, B. | +64

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