Detalhe da pesquisa
1.
A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature.
J Clin Immunol
; 44(1): 1, 2023 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38100037
2.
The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS.
Neuropediatrics
; 52(5): 358-369, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33578440
3.
Correction to: A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature.
J Clin Immunol
; 44(1): 41, 2024 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38225415
4.
Congenital Glucose-Galactose Malabsorption in a Turkish Newborn: A Novel Mutation of Na+/Glucose Cotransporter Gene.
Dig Dis Sci
; 62(1): 280-281, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27783308
5.
Specific Granule Deficiency Due To Novel Homozygote SMARCD2 Variant.
Pediatr Allergy Immunol Pulmonol
; 35(1): 43-46, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35320004
6.
Vascular endothelial growth factor +405 C/G polymorphism is highly associated with an increased risk of endometriosis in Turkish women.
Arch Gynecol Obstet
; 283(2): 267-72, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20041256
7.
Isolated congenital diaphragm hernia associated with homozygous SLIT3 gene variant in dizygous twins.
Eur J Med Genet
; 64(7): 104215, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33933663
8.
Familial primary carpal tunnel syndrome with possible skipped generation.
Eur J Pediatr
; 169(4): 453-5, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19756731
9.
Fabry Disease Screening in Patients With Kidney Transplant: A Single-Center Study in Turkey.
Exp Clin Transplant
; 18(4): 444-449, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32281532
10.
GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals.
J Genet
; 87(1): 53-7, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18560174
11.
[Autosomal dominant inheritance of congenital dislocation of the hip in 16 members of a family]. / Bir ailenin 16 üyesinde otozomal dominant kalitim gösteren gelisimsel kalça çikigi.
Acta Orthop Traumatol Turc
; 42(4): 289-91, 2008.
Artigo
em Turco
| MEDLINE | ID: mdl-19060525
12.
Investigation of MKRN3 Mutation in Patients with Familial Central Precocious Puberty
J Clin Res Pediatr Endocrinol
; 10(3): 223-229, 2018 07 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-29537379
13.
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
14.
A case of fetal anticonvulsant syndrome with severe bilateral upper limb defect.
J Matern Fetal Neonatal Med
; 19(2): 115-7, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16676441
15.
A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus.
Eur J Med Genet
; 59(11): 604-606, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27638328
16.
Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey.
Turk J Pediatr
; 58(4): 362-370, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28276207
17.
A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient.
J Invest Dermatol
; 124(5): 914-8, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15854030
18.
A boy with trisomy 13 presenting with a subtle clinical picture and metopic synostosis.
Am J Med Genet A
; 149A(7): 1608-9, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19533776
19.
Genetic abnormalities in Turkish women with premature ovarian failure.
Int J Gynaecol Obstet
; 110(2): 122-4, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20471647
20.
Prenatally diagnosed partial trisomy 3q case with an omphalocele and less severe phenotype.
J Turk Ger Gynecol Assoc
; 11(4): 228-32, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-24591944