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1.
Coexistence of Bloom Syndrome and Kostmann Disease and a Novel Mutation.
J Pediatr Hematol Oncol
; 46(2): e199-e201, 2024 Mar 01.
Article
in English
| MEDLINE | ID: mdl-38113221
2.
Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study.
Neuropediatrics
; 54(4): 225-238, 2023 08.
Article
in English
| MEDLINE | ID: mdl-36787800
3.
Lathosterolosis: a rare cholesterol metabolism disorder with a wide range of clinical variability.
J Pediatr Endocrinol Metab
; 36(4): 424-429, 2023 Apr 25.
Article
in English
| MEDLINE | ID: mdl-36607840
4.
A New Variant of the IER3IP1 Gene: The First Case of Microcephaly, Epilepsy, and Diabetes Syndrome 1 from Turkey.
J Clin Res Pediatr Endocrinol
; 2022 Nov 23.
Article
in English
| MEDLINE | ID: mdl-36416459
5.
Autosomal recessive Robinow syndrome with novel ROR2 variants: distinct cases exhibiting the clinical variability.
Clin Dysmorphol
; 29(3): 137-140, 2020 Jul.
Article
in English
| MEDLINE | ID: mdl-32195677
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