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1.
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Am J Hum Genet
; 108(10): 1981-2005, 2021 10 07.
Article
in English
| MEDLINE | ID: mdl-34582790
2.
Impact of Inflammation-Related Genes on COVID-19: Prospective Study at Turkish Cohort.
Tohoku J Exp Med
; 261(3): 179-185, 2023 Nov 11.
Article
in English
| MEDLINE | ID: mdl-37635061
3.
The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum.
Ann Hum Genet
; 86(3): 119-126, 2022 05.
Article
in English
| MEDLINE | ID: mdl-34961929
4.
The unprecedented recurrent diploid/tetraploid mosaicism of trisomy-18 (mixoploidy; 4n+18/2n+18): clinical report.
Am J Med Genet A
; 167(7): 1650-3, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25851783
5.
A rare case of multiple cutaneous melanomas in Li-Fraumeni syndrome: A coincidental association or a component of the syndrome?
Australas J Dermatol
; 60(3): e214-e216, 2019 Aug.
Article
in English
| MEDLINE | ID: mdl-30809791
6.
Reanalysis of Whole-Exome Sequencing Data of an Infant with Suspected Diagnosis of Jeune Syndrome Revealed a Likely Pathogenic Variant in GRK2: A Newly Associated Gene for Jeune Syndrome Phenotype.
Mol Syndromol
; 15(2): 119-124, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38585547
7.
A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3.
Mol Syndromol
; 14(2): 136-142, 2023 Apr.
Article
in English
| MEDLINE | ID: mdl-37064336
8.
Frequency of germline BRCA1/2 mutations and association with clinicopathological characteristics in Turkish women with epithelial ovarian cancer.
Asia Pac J Clin Oncol
; 18(1): 84-92, 2022 Feb.
Article
in English
| MEDLINE | ID: mdl-33629534
9.
Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family.
J Pediatr Endocrinol Metab
; 34(5): 653-657, 2021 May 26.
Article
in English
| MEDLINE | ID: mdl-33647194
10.
A new familial case of Jalili syndrome caused by a novel mutation in CNNM4.
Ophthalmic Genet
; 38(2): 161-166, 2017.
Article
in English
| MEDLINE | ID: mdl-27070327
11.
A novel mutated sequence in the T-box transcription factor-5 (TBX-5) gene (c.241A>T) in Holt-Oram syndrome.
J Turk Ger Gynecol Assoc
; 17(1): 55-7, 2016.
Article
in English
| MEDLINE | ID: mdl-27026770
12.
Severe insulin resistance alters metabolism in mesenchymal progenitor cells.
Endocrinology
; 156(6): 2039-48, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25811318
13.
Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development.
J Pediatr Endocrinol Metab
; 28(11-12): 1257-63, 2015 Nov 01.
Article
in English
| MEDLINE | ID: mdl-26197461
14.
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Neuron
; 88(3): 499-513, 2015 Nov 04.
Article
in English
| MEDLINE | ID: mdl-26539891
15.
A case of Carvajal syndrome associated with cervical neuroblastoma in an 8-year-old girl.
Int J Dermatol
; 58(5): 611-613, 2019 May.
Article
in English
| MEDLINE | ID: mdl-30079965
16.
ADAMTS4 and ADAMTS5 knockout mice are protected from versican but not aggrecan or brevican proteolysis during spinal cord injury.
Biomed Res Int
; 2014: 693746, 2014.
Article
in English
| MEDLINE | ID: mdl-25101296
17.
Widespread keratosis pilaris in a patient with Noonan syndrome with multiple lentigines.
Int J Dermatol
; 57(11): e140-e141, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30152106
18.
ADAMTS1, ADAMTS5, ADAMTS9 and aggrecanase-generated proteoglycan fragments are induced following spinal cord injury in mouse.
Neurosci Lett
; 544: 25-30, 2013 Jun 07.
Article
in English
| MEDLINE | ID: mdl-23562508
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