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The Turkish Journal of Pediatrics
|
October 28, 2005
Unilateral pulmonary agenesis associated with colloidal goiter in a newborn: a case report
Güzide Ayşe Gökhan, Gülay Ozbilim, Sevgi Bozova, et al.
American Journal of Medical Genetics. Part A
|
March 5, 2015
A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I
Esra Kilic, Gökhan Yigit, Gülen Eda Utine, et al.
American Journal of Medical Genetics. Part A
|
August 6, 2013
Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome
Banu Guzel Nur, Francois P Bernier, Osman Oztekin, et al.
Gene
|
February 27, 2022
Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA
Yunus Arikan, Sibel Berker Karauzum, Hilmi Uysal, et al.
Cytogenetic and Genome Research
|
July 6, 2021
Coexistence of a Homozygous Chromosome 4q35.2 Deletion and Hidden IQSEC2 Pathogenic Variant in a Child with Intellectual Disability
Tuğba Karaman Mercan, Ozden Altiok Clark, Ozgur Erkal, et al.
Indian Journal of Pediatrics
|
March 3, 2022
Novel Gene Variants Associated with Primary Ciliary Dyskinesia
Durkadin Demir Eksi, Elanur Yilmaz, A Erdem Basaran, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
August 22, 2008
Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients
Alessandra Pangrazio, Maria Elena Caldana, Cristina Sobacchi, et al.
American Journal of Human Genetics
|
December 17, 2009
Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia
Jan Hellemans, Marleen Simon, Annelies Dheedene, et al.
Journal of Human Genetics
|
December 8, 2020
Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience
Pelin Ozlem Simsek-Kiper, Gizem Urel-Demir, Ekim Z Taskiran, et al.
American Journal of Medical Genetics. Part A
|
April 13, 2023
The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review
Gokcen Karamik, Beyhan Tuysuz, Esra Isik, et al.
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of 5
Search research articles
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Showing results (21-30 of 44) with videos related to
Sort By:
Page
of 5
The Turkish Journal of Pediatrics
|
October 28, 2005
Unilateral pulmonary agenesis associated with colloidal goiter in a newborn: a case report
Güzide Ayşe Gökhan, Gülay Ozbilim, Sevgi Bozova, et al.
American Journal of Medical Genetics. Part A
|
March 5, 2015
A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I
Esra Kilic, Gökhan Yigit, Gülen Eda Utine, et al.
American Journal of Medical Genetics. Part A
|
August 6, 2013
Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome
Banu Guzel Nur, Francois P Bernier, Osman Oztekin, et al.
Gene
|
February 27, 2022
Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA
Yunus Arikan, Sibel Berker Karauzum, Hilmi Uysal, et al.
Cytogenetic and Genome Research
|
July 6, 2021
Coexistence of a Homozygous Chromosome 4q35.2 Deletion and Hidden IQSEC2 Pathogenic Variant in a Child with Intellectual Disability
Tuğba Karaman Mercan, Ozden Altiok Clark, Ozgur Erkal, et al.
Indian Journal of Pediatrics
|
March 3, 2022
Novel Gene Variants Associated with Primary Ciliary Dyskinesia
Durkadin Demir Eksi, Elanur Yilmaz, A Erdem Basaran, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
August 22, 2008
Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients
Alessandra Pangrazio, Maria Elena Caldana, Cristina Sobacchi, et al.
American Journal of Human Genetics
|
December 17, 2009
Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia
Jan Hellemans, Marleen Simon, Annelies Dheedene, et al.
Journal of Human Genetics
|
December 8, 2020
Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience
Pelin Ozlem Simsek-Kiper, Gizem Urel-Demir, Ekim Z Taskiran, et al.
American Journal of Medical Genetics. Part A
|
April 13, 2023
The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review
Gokcen Karamik, Beyhan Tuysuz, Esra Isik, et al.
Page
of 5