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1.
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Funct Integr Genomics
; 22(3): 291-315, 2022 Jun.
Article
in English
| MEDLINE | ID: mdl-35098403
2.
Modeling human retinal development with patient-specific induced pluripotent stem cells reveals multiple roles for visual system homeobox 2.
Stem Cells
; 32(6): 1480-92, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-24532057
3.
HACE1 deficiency leads to structural and functional neurodevelopmental defects.
Neurol Genet
; 5(3): e330, 2019 Jun.
Article
in English
| MEDLINE | ID: mdl-31321300
4.
Y chromosome azoospermia factor region microdeletions and recurrent pregnancy loss.
Am J Obstet Gynecol
; 199(6): 662.e1-5, 2008 Dec.
Article
in English
| MEDLINE | ID: mdl-18822402
5.
Effects of microalgae Chlorella species crude extracts on intestinal adaptation in experimental short bowel syndrome.
World J Gastroenterol
; 14(28): 4512-7, 2008 Jul 28.
Article
in English
| MEDLINE | ID: mdl-18680231
6.
Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.32 region.
Turk J Pediatr
; 60(1): 94-98, 2018.
Article
in English
| MEDLINE | ID: mdl-30102487
7.
LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia.
Eur J Med Genet
; 60(3): 200-204, 2017 Mar.
Article
in English
| MEDLINE | ID: mdl-28111184
8.
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Nat Genet
; 49(4): 537-549, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-28191891
9.
A case with de novo inv dup del(8p) associated with dextrocardia and corpus callosum agenesis.
Pediatr Int
; 52(5): 845-6, 2010 Oct.
Article
in English
| MEDLINE | ID: mdl-20880309
10.
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
J Clin Invest
; 125(9): 3585-99, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-26280580
11.
Femoral-facial syndrome with hemifacial microsomia and hypoglossia.
Clin Dysmorphol
; 13(1): 43-4, 2004 Jan.
Article
in English
| MEDLINE | ID: mdl-15127766
12.
Molecular karyotyping of an isolated partial trisomy 11q patient with additional findings.
Gene
; 524(2): 355-60, 2013 Jul 25.
Article
in English
| MEDLINE | ID: mdl-23644025
13.
Blood-derived human iPS cells generate optic vesicle-like structures with the capacity to form retinal laminae and develop synapses.
Invest Ophthalmol Vis Sci
; 53(4): 2007-19, 2012 Apr 18.
Article
in English
| MEDLINE | ID: mdl-22410558
14.
Thiopurine methyltransferase polymorphisms and mercaptopurine tolerance in Turkish children with acute lymphoblastic leukemia.
Cancer Chemother Pharmacol
; 68(5): 1155-9, 2011 Nov.
Article
in English
| MEDLINE | ID: mdl-21400026
15.
Supernumerary marker chromosome 15 in a male with azoospermia and open bite deformity.
Asian J Androl
; 11(5): 617-22, 2009 Sep.
Article
in English
| MEDLINE | ID: mdl-19701220
16.
An unexpected finding in a child with neurological problems: mosaic ring chromosome 18.
Eur J Pediatr
; 167(6): 655-9, 2008 Jun.
Article
in English
| MEDLINE | ID: mdl-17668239
17.
Larsen's syndrome with dental anomalies: report of a case.
ASDC J Dent Child
; 69(2): 172-4, 125, 2002.
Article
in English
| MEDLINE | ID: mdl-12515061
18.
Anencephalic infant with cleft palate and natal teeth: a case report.
Cleft Palate Craniofac J
; 41(4): 456-8, 2004 Jul.
Article
in English
| MEDLINE | ID: mdl-15222788
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