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1.
Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability.
Eur J Endocrinol
; 189(3): 387-395, 2023 Sep 01.
Article
in English
| MEDLINE | ID: mdl-37695807
2.
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.
J Clin Endocrinol Metab
; 108(12): e1580-e1587, 2023 Nov 17.
Article
in English
| MEDLINE | ID: mdl-37339320
3.
Delayed Puberty Phenotype Observed in Noonan Syndrome Is More Pronounced in Girls than Boys.
Horm Res Paediatr
; 95(1): 51-61, 2022.
Article
in English
| MEDLINE | ID: mdl-35176743
4.
Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study.
Horm Res Paediatr
; 95(3): 264-274, 2022.
Article
in English
| MEDLINE | ID: mdl-35390795
5.
Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature.
Endocr Connect
; 11(12)2022 Dec 01.
Article
in English
| MEDLINE | ID: mdl-36373817
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