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H Kayserili

Showing results (1-10 of 44) with videos related to

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Fetal Diagnosis and Therapy|January 18, 2007
Short femurs detected at 25 and 31 weeks of gestation diagnosed as Leroy I-cell disease in the postnatal period: a report of two casesA Yuksel, H Kayserili, F Gungor
European Journal of Human Genetics : EJHG|November 26, 1999
Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA)S Eraslan, H Kayserili, M Y Apak, et al.
The Turkish Journal of Pediatrics|July 1, 1997
A case of brachyolmiaN Karabiyik, F Oğuz, M Sidal, et al.
Molecular Syndromology|April 10, 2014
Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish FamilyZ O Uyguner, M Kocaoğlu, G Toksoy, et al.
Journal of Medical Genetics|May 12, 2000
Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutationL Nuytinck, T Tükel, H Kayserili, et al.
Human Mutation|June 22, 2000
Fanconi anemia A due to a novel frameshift mutation in hotspot motifs: lack of FANCA proteinG Balta, J P de Winter, H Kayserili, et al.
Genetic Counseling (Geneva, Switzerland)|September 12, 2018
SUBMICROSCOPIC DUPLICATION OF 8q24.3 REGION IS A POTENTIAL CANDIDATE FOR DISORDERS OF SEX DEVELOPMENTF N Dilek, E F Perçin, H Kayserili, et al.
Human Heredity|February 25, 2000
Screening of deletions in SMN, NAIP and BTF2p44 genes in Turkish spinal muscular atrophy patientsS Savas, N Gokgoz, H Kayserili, et al.
American Journal of Hematology|March 8, 2000
A rare mutation [IVS-I-130 (G-A)] in a Turkish beta-thalassemia major patientG O Tadmouri, O Bilenoğlu, S Kantarci, et al.
American Journal of Medical Genetics|October 21, 1998
Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11F Dutly, A Baumer, H Kayserili, et al.
Pageof 5

Showing results (1-10 of 44) with videos related to

Sort By:
Pageof 5
Fetal Diagnosis and Therapy|January 18, 2007
Short femurs detected at 25 and 31 weeks of gestation diagnosed as Leroy I-cell disease in the postnatal period: a report of two casesA Yuksel, H Kayserili, F Gungor
European Journal of Human Genetics : EJHG|November 26, 1999
Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA)S Eraslan, H Kayserili, M Y Apak, et al.
The Turkish Journal of Pediatrics|July 1, 1997
A case of brachyolmiaN Karabiyik, F Oğuz, M Sidal, et al.
Molecular Syndromology|April 10, 2014
Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish FamilyZ O Uyguner, M Kocaoğlu, G Toksoy, et al.
Journal of Medical Genetics|May 12, 2000
Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutationL Nuytinck, T Tükel, H Kayserili, et al.
Human Mutation|June 22, 2000
Fanconi anemia A due to a novel frameshift mutation in hotspot motifs: lack of FANCA proteinG Balta, J P de Winter, H Kayserili, et al.
Genetic Counseling (Geneva, Switzerland)|September 12, 2018
SUBMICROSCOPIC DUPLICATION OF 8q24.3 REGION IS A POTENTIAL CANDIDATE FOR DISORDERS OF SEX DEVELOPMENTF N Dilek, E F Perçin, H Kayserili, et al.
Human Heredity|February 25, 2000
Screening of deletions in SMN, NAIP and BTF2p44 genes in Turkish spinal muscular atrophy patientsS Savas, N Gokgoz, H Kayserili, et al.
American Journal of Hematology|March 8, 2000
A rare mutation [IVS-I-130 (G-A)] in a Turkish beta-thalassemia major patientG O Tadmouri, O Bilenoğlu, S Kantarci, et al.
American Journal of Medical Genetics|October 21, 1998
Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11F Dutly, A Baumer, H Kayserili, et al.
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