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1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
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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