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1.
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
J Med Genet
; 57(7): 466-474, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32277047
2.
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.
J Med Genet
; 57(12): 808-819, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32409512
3.
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Genet Med
; 22(11): 1838-1850, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32694869
4.
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.
Clin Genet
; 98(1): 43-55, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32279304
5.
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Am J Hum Genet
; 99(6): 1368-1376, 2016 Dec 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27889060
6.
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants.
Genet Med
; 21(11): 2504-2511, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31036916
7.
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.
Genet Med
; 20(6): 645-654, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29095811
8.
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Genet Med
; 19(9): 989-997, 2017 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-28151489
9.
Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.
Am J Med Genet A
; 173(1): 62-71, 2017 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-27615324
10.
Prenatal presentation of Aicardi-Goutières syndrome: Nonspecific phenotype necessitates exome sequencing for definitive diagnosis.
Prenat Diagn
; 39(9): 806-810, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30681164
11.
Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis.
Am J Med Genet A
; 176(11): 2509-2512, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30244529
12.
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
Eur J Med Genet
; 66(1): 104670, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36414205
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34782754
14.
A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy.
Epilepsia Open
; 4(3): 464-475, 2019 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-31440727
15.
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.
Eur J Hum Genet
; 27(10): 1519-1531, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31231135
16.
Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.
Cell Stem Cell
; 24(2): 257-270.e8, 2019 02 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30595499
17.
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.
Eur J Hum Genet
; 27(8): 1197-1214, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31019283
18.
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.
Eur J Hum Genet
; 26(3): 340-349, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29330547
19.
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.
Eur J Med Genet
; 60(11): 595-604, 2017 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-28807864
20.
Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis.
J Invest Dermatol
; 137(7): 1575-1578, 2017 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-28257793
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