Detalhe da pesquisa
1.
A novel homozygous nonsense NDNF variant in Kallmann syndrome.
Am J Med Genet A
; 191(3): 831-834, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36454653
2.
Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance.
Clin Endocrinol (Oxf)
; 88(6): 799-805, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29582446
3.
Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome.
Am J Med Genet A
; 170A(4): 942-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26788866
4.
New onset diabetes in children during the COVID-19 Pandemic: an assessment of biomarkers and psychosocial risk factors at play in Mississippi.
Ann Pediatr Endocrinol Metab
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38853577
5.
The Authors' Reply: In systemic pseudohypoaldosteronism type 1 skin manifestations are not rare and the disease is not transient.
Clin Endocrinol (Oxf)
; 89(2): 241-242, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29772605
6.
Textile dye removal in wastewater by peroxymonosulfate (PMS) activation on a zero-valent iron nanoparticle-modified ultrafiltration catalytic membrane (nZVI@PES).
Environ Sci Pollut Res Int
; 30(41): 94779-94789, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37540413
7.
Chromium levels in healthy and newly diagnosed type 1 diabetic children.
Pediatr Int
; 54(6): 780-5, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22783884
8.
Relationship between metabolic control and neurocognitive functions in children diagnosed with type I diabetes mellitus before and after 5 years of age.
Turk J Pediatr
; 54(4): 352-61, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23692715
9.
Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency.
J Clin Endocrinol Metab
; 107(6): e2359-e2364, 2022 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35218660
10.
A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy.
J Pediatr Endocrinol Metab
; 24(1-2): 105-8, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21528827
11.
DLG2 Mutations in the Etiology of Pubertal Delay and Idiopathic Hypogonadotropic Hypogonadism.
Horm Res Paediatr
; 94(9-10): 364-368, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34695822
12.
Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets.
J Pediatr Endocrinol Metab
; 34(5): 639-648, 2021 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33852231
13.
Molecular causes of hypogonadotropic hypogonadism.
Curr Opin Obstet Gynecol
; 22(4): 264-70, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20543690
14.
Novel growth hormone receptor gene mutation in a patient with Laron syndrome.
J Pediatr Endocrinol Metab
; 23(4): 407-14, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20583548
15.
Gender Identity and Assignment Recommendations in Disorders of Sex Development Patients: 20 Years' Experience and Challenges
J Clin Res Pediatr Endocrinol
; 12(4): 347-357, 2020 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32212580
16.
Thyroid peroxidase gene mutations causing congenital hypothyroidism in three Turkish families.
J Pediatr Endocrinol Metab
; 22(11): 1033-9, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20101889
17.
A Novel Frameshift Mutation in ESCO2 Gene in Roberts Syndrome.
J Coll Physicians Surg Pak
; 28(5): 403-405, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29690975
18.
Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations.
Turk J Pediatr
; 59(4): 434-441, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29624224
19.
Sertoli cell only syndrome with ambiguous genitalia.
J Pediatr Endocrinol Metab
; 29(7): 849-52, 2016 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27124672
20.
Withdrawal syndrome and hypomagnesaemia and in a newborn exposed to valproic acid and carbamazepine during pregnancy.
Turk Pediatri Ars
; 51(2): 114-6, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27489470