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1.
B-cell immune deficiency in twin sisters expands the phenotype of MOPDI.
Clin Genet
; 2024 Jun 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38837402
2.
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Am J Hum Genet
; 107(5): 963-976, 2020 11 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33157009
3.
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Am J Hum Genet
; 104(2): 213-228, 2019 02 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30639323
4.
Identification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing technology.
Childs Nerv Syst
; 36(5): 961-965, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32103336
5.
A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.
Am J Med Genet A
; 167A(1): 164-8, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25425123
6.
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).
Eur J Hum Genet
; 2024 May 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-38802530
7.
A Novel Leptin Receptor LEPR Variant in a Toddler With Early-Onset Fatal Obesity.
Pediatrics
; 152(1)2023 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37381830
8.
Chromosomal rearrangement in the 22q11.2 region: a critical locus for sociability and attentional skills.
Psychiatr Genet
; 33(5): 202-205, 2023 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37706496
9.
Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients.
Eur J Med Genet
; 65(4): 104458, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-35189377
10.
Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD.
Mol Autism
; 12(1): 8, 2021 02 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33546725
11.
Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency.
Eur J Med Genet
; 63(10): 103994, 2020 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-32707268
12.
Intrauterine Growth Restriction and Hypertrophic Cardiomyopathy as Prenatal Ultrasound Findings in a Case of Leprechaunism.
Mol Syndromol
; 11(4): 223-227, 2020 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-33224016
13.
Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.
Eur J Med Genet
; 63(6): 103897, 2020 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-32092440
14.
Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing.
Mol Syndromol
; 10(4): 209-213, 2019 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-31602193
15.
Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy.
Epileptic Disord
; 20(4): 289-294, 2018 Aug 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30078772
16.
A New Observation of an Atypical and Severe Variant of the Guillain-Barre Syndrome in a Child: Remaining Challenges for Diagnosis, Nosologic Classification, and Therapeutic Course.
Child Neurol Open
; 2(4): 2329048X15609053, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-28503595
17.
ZEB2, a new candidate gene for asplenia.
Orphanet J Rare Dis
; 9: 2, 2014 Jan 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-24401652
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