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1.
Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome.
Am J Med Genet A
; : e63581, 2024 Apr 11.
Article
in English
| MEDLINE | ID: mdl-38600862
2.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Am J Hum Genet
; 103(4): 553-567, 2018 10 04.
Article
in English
| MEDLINE | ID: mdl-30290151
3.
Unique skeletal manifestations in patients with Primrose syndrome.
Eur J Med Genet
; 63(8): 103967, 2020 Aug.
Article
in English
| MEDLINE | ID: mdl-32473227
4.
[A rare type of severe obesity in children and adolescents].
Ugeskr Laeger
; 179(8)2017 Feb 20.
Article
in Danish
| MEDLINE | ID: mdl-28397663
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