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1.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med
; 23(2): 352-362, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33106617
2.
Phenotypic heterogeneity of ZMPSTE24 deficiency.
Am J Med Genet A
; 176(5): 1175-1179, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29341437
3.
What patients and their relatives think about testing for BMPR2.
J Genet Couns
; 17(5): 452-8, 2008 Oct.
Article
in English
| MEDLINE | ID: mdl-18791814
4.
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
Genet Med
; 9(7): 427-41, 2007 Jul.
Article
in English
| MEDLINE | ID: mdl-17666889
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