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1.
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
Am J Hum Genet
; 101(5): 856-865, 2017 Nov 02.
Article
in English
| MEDLINE | ID: mdl-29100095
2.
Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect.
Am J Med Genet A
; 167(7): 1565-9, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25899869
3.
A multidisciplinary approach to the clinical management of Prader-Willi syndrome.
Mol Genet Genomic Med
; 7(3): e514, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30697974
4.
POGZ truncating alleles cause syndromic intellectual disability.
Genome Med
; 8(1): 3, 2016 Jan 06.
Article
in English
| MEDLINE | ID: mdl-26739615
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