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1.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
J Med Genet
; 61(6): 503-519, 2024 May 21.
Article
in English
| MEDLINE | ID: mdl-38471765
2.
Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier-Gorlin syndrome variant.
Clin Genet
; 2024 May 21.
Article
in English
| MEDLINE | ID: mdl-38773883
3.
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.
Clin Genet
; 104(1): 100-106, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37121912
4.
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.
Hum Mutat
; 42(7): 862-876, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33942433
5.
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.
Am J Hum Genet
; 92(4): 598-604, 2013 Apr 04.
Article
in English
| MEDLINE | ID: mdl-23522784
6.
A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.
Cytogenet Genome Res
; 146(3): 181-6, 2015.
Article
in English
| MEDLINE | ID: mdl-26382598
7.
Neurogenic Defects Occur in LRIG2-Associated Urinary Bladder Disease.
Kidney Int Rep
; 8(7): 1417-1429, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-37441484
8.
Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient.
Hum Genome Var
; 7: 20, 2020.
Article
in English
| MEDLINE | ID: mdl-32549991
9.
Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).
Mol Genet Genomic Med
; 7(12): e1016, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31663686
10.
[Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis]. / Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio.
An Pediatr (Engl Ed)
; 89(1): 3-11, 2018 Jul.
Article
in Spanish
| MEDLINE | ID: mdl-28958749
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