Search Results - "Demiral, Emine"

A Case of Cleidocranial Dysplasia with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment by Çamtosun, Emine, Akıncı, Ayşehan, Demiral, Emine, Tekedereli, İbrahim, Sığırcı, Ahmet

“…Cleidocranial dysplasia (CCD) is a rare congenital autosomal dominant skeletal disorder that is characterized by hypoplasia or aplasia of clavicles, failure of…”
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The Investigation of Genotype-Phenotype Relationship in Multiple Primary Malignant Neoplasia Patients by Duzkale, Neslihan, Demıral, Emine

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A rare mutation in the EPG5 gene causes Vici syndrome by Demiral, Emine, Sen, Askin, Esener, Zeynep, Ceylaner, Serdar, Tekedereli, Ibrahim

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A Cleidocranial Dysplasia Case with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment by Çamtosun, Emine, Akıncı, Ayşehan, Demiral, Emine, Tekedereli, İbrahim, Sığırcı, Ahmet

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Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family by Tekedereli, Ibrahim, Demiral, Emine, Gokce, Ismail K., Esener, Zeynep, Camtosun, Emine, Akinci, Aysehan

“…FBLN5-related cutis laxa (CL) is a rare syndrome that can be inherited in an autosomal dominant or recessive manner. Autosomal recessive cutis laxa (ARCL),…”
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Clinical and molecular findings in 6 Turkish cases with Krabbe disease by Aslanger, Ayça Dilruba, Şengenç, Esma, Kölemen, Ayşe Betül, Demiral, Emine, Alkan, Alpay, İşcan, Akın, Yeşil, Gözde

“…Krabbe disease is a rare lysosomal storage disorder with a neurodegenerative course that occurs because of the deficiency of the beta-galactocerebrosidase…”
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Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis by Hotz, Alrun, Kopp, Julia, Bourrat, Emmanuelle, Oji, Vinzenz, Süßmuth, Kira, Komlosi, Katalin, Bouadjar, Bakar, Tantcheva-Poór, Iliana, Hellström Pigg, Maritta, Betz, Regina C, Giehl, Kathrin, Schedel, Fiona, Weibel, Lisa, Schulz, Solveig, Stölzl, Dora V, Tadini, Gianluca, Demiral, Emine, Berggard, Karin, Zimmer, Andreas D, Alter, Svenja, Fischer, Judith

“…Autosomal recessive congenital ichthyosis (ARCI) is a non-syndromic congenital disorder of cornification characterized by abnormal scaling of the skin. The…”
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Mutational Spectrum of the IABCA12/I Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis by Hotz, Alrun, Kopp, Julia, Bourrat, Emmanuelle, Oji, Vinzenz, Süßmuth, Kira, Komlosi, Katalin, Bouadjar, Bakar, Tantcheva-Poór, Iliana, Hellström Pigg, Maritta, Betz, Regina C, Giehl, Kathrin, Schedel, Fiona, Weibel, Lisa, Schulz, Solveig, Stölzl, Dora V, Tadini, Gianluca, Demiral, Emine, Berggard, Karin, Zimmer, Andreas D, Alter, Svenja, Fischer, Judith

“…Autosomal recessive congenital ichthyosis (ARCI) is a non-syndromic congenital disorder of cornification characterized by abnormal scaling of the skin. The…”
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