Detalles de la búsqueda
1.
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Am J Hum Genet
; 104(5): 815-834, 2019 05 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31031012
2.
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
Hum Genet
; 138(1): 61-72, 2019 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-30535804
3.
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Am J Hum Genet
; 98(3): 541-552, 2016 Mar 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-26942287
4.
Diagnosis of hepatocellular adenoma in men before onset of diabetes in HNF1A-MODY: Watch out for winkers.
Liver Int
; 39(11): 2042-2045, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31483937
5.
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Am J Hum Genet
; 96(3): 462-73, 2015 Mar 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-25683120
6.
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.
Am J Med Genet A
; 176(12): 2554-2560, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30475435
7.
Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.
Genet Med
; 18(9): 914-23, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-26820064
8.
MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions.
Am J Med Genet A
; 155A(11): 2739-45, 2011 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-21990140
9.
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.
Eur J Hum Genet
; 27(5): 738-746, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30679813
10.
Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic ALPK3-Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum.
Circ Genom Precis Med
; 16(5): 493-495, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37671554
11.
Methylmalonic acid and homocysteine assessment in the detection of vitamin B12 deficiency in patients with bilateral visual loss.
Acta Ophthalmol
; 90(3): e252-3, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22268586
Resultados
1 -
11
de 11
1
Próxima >
>>