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1.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(5): 840-856, 2021 05 06.
Article
in English
| MEDLINE | ID: mdl-33861953
2.
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
Hum Mutat
; 40(11): 2033-2043, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31231873
3.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(6): 1164, 2021 Jun 03.
Article
in English
| MEDLINE | ID: mdl-34087166
4.
Preclinical Advances of Therapies for Laminopathies.
J Clin Med
; 10(21)2021 Oct 21.
Article
in English
| MEDLINE | ID: mdl-34768351
5.
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.
J Clin Endocrinol Metab
; 102(1): 290-301, 2017 01 01.
Article
in English
| MEDLINE | ID: mdl-27820671
6.
The 2022 version of the gene table of neuromuscular disorders (nuclear genome).
Neuromuscul Disord
; 31(12): 1313-1357, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34930546
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