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1.
Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: A systematic review.
Clin Genet
; 97(1): 125-137, 2020 01.
Article
in English
| MEDLINE | ID: mdl-30873608
2.
Huntingtin gene CAG repeat size affects autism risk: Family-based and case-control association study.
Am J Med Genet B Neuropsychiatr Genet
; 183(6): 341-351, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32652810
3.
When alpha spectrin null alleles meet low expression alpha spectrin polymorphisms.
Br J Haematol
; 203(4): 684-687, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37565283
4.
Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability.
J Hum Genet
; 61(4): 283-93, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26657932
5.
RNA sequencing of blood from sex- and age-matched discordant siblings supports immune and transcriptional dysregulation in autism spectrum disorder.
Sci Rep
; 13(1): 807, 2023 01 16.
Article
in English
| MEDLINE | ID: mdl-36646776
6.
Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder.
Mol Genet Genomic Med
; 11(8): e2182, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37186221
7.
Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome.
Genes (Basel)
; 13(12)2022 11 23.
Article
in English
| MEDLINE | ID: mdl-36553464
8.
Yield of array-CGH analysis in Tunisian children with autism spectrum disorder.
Mol Genet Genomic Med
; 10(8): e1939, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35762097
9.
COL1-Related Disorders: Case Report and Review of Overlapping Syndromes.
Front Genet
; 12: 640558, 2021.
Article
in English
| MEDLINE | ID: mdl-34025714
10.
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.
Chromosome Res
; 17(6): 763-71, 2009.
Article
in English
| MEDLINE | ID: mdl-19690971
11.
Appropriateness of array-CGH in the ADHD clinics: A comparative study.
Genes Brain Behav
; 19(6): e12651, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32141190
12.
FARP-1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family.
Mol Genet Genomic Med
; 8(9): e1373, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32588496
13.
An Interstitial 17q11.2 de novo Deletion Involving the CDK5R1 Gene in a High-Functioning Autistic Patient.
Mol Syndromol
; 9(5): 247-252, 2019 Jan.
Article
in English
| MEDLINE | ID: mdl-30733659
14.
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
BMC Med Genet
; 7: 77, 2006 Oct 19.
Article
in English
| MEDLINE | ID: mdl-17052327
15.
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis.
Eur J Hum Genet
; 18(7): 768-75, 2010 Jul.
Article
in English
| MEDLINE | ID: mdl-20125191
16.
Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL.
Genet Med
; 9(3): 188-94, 2007 Mar.
Article
in English
| MEDLINE | ID: mdl-17413424
17.
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints.
Genomics
; 90(5): 567-73, 2007 Nov.
Article
in English
| MEDLINE | ID: mdl-17855048
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