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1.
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Am J Hum Genet
; 108(2): 346-356, 2021 02 04.
Article
in English
| MEDLINE | ID: mdl-33513338
2.
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Genet Med
; 26(7): 101126, 2024 Mar 24.
Article
in English
| MEDLINE | ID: mdl-38529886
3.
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Am J Med Genet A
; 191(7): 1900-1910, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37183572
4.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Am J Hum Genet
; 104(6): 1210-1222, 2019 06 06.
Article
in English
| MEDLINE | ID: mdl-31079897
5.
Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype.
Clin Genet
; 99(5): 732-739, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33506510
6.
Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders.
PLoS Genet
; 13(1): e1006516, 2017 Jan.
Article
in English
| MEDLINE | ID: mdl-28076348
7.
Correction: Pleiotropic Mechanisms Indicated for Sex Differences in Autism.
PLoS Genet
; 13(6): e1006831, 2017 Jun.
Article
in English
| MEDLINE | ID: mdl-28591140
8.
Pleiotropic Mechanisms Indicated for Sex Differences in Autism.
PLoS Genet
; 12(11): e1006425, 2016 11.
Article
in English
| MEDLINE | ID: mdl-27846226
9.
Nuclear volume differences between balanced and unbalanced spermatozoa in chromosomal translocation carriers.
Reprod Biomed Online
; 30(3): 290-5, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25599825
10.
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Front Genet
; 14: 1099995, 2023.
Article
in English
| MEDLINE | ID: mdl-37035737
11.
Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases.
Eur J Med Genet
; 65(2): 104422, 2022 Feb.
Article
in English
| MEDLINE | ID: mdl-35026468
12.
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network.
Eur J Hum Genet
; 30(5): 567-576, 2022 05.
Article
in English
| MEDLINE | ID: mdl-34782754
13.
Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D.
Front Endocrinol (Lausanne)
; 12: 736240, 2021.
Article
in English
| MEDLINE | ID: mdl-34721296
14.
Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing.
Mol Genet Metab Rep
; 24: 100621, 2020 Sep.
Article
in English
| MEDLINE | ID: mdl-32670797
15.
ATP7A mutation with occipital horns and distal motor neuropathy: A continuum.
Eur J Med Genet
; 63(12): 104087, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-33137485
16.
Antenatal finding of 16q24.1 duplication including FOXF1, revealing an autosomal dominant familial pathology with congenital short bowel, malrotation and renal abnormalities.
Clin Res Hepatol Gastroenterol
; 45(5): 101562, 2021 09.
Article
in English
| MEDLINE | ID: mdl-33208297
17.
Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.
Eur J Med Genet
; 58(6-7): 341-5, 2015.
Article
in English
| MEDLINE | ID: mdl-25917374
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