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Molecular syndromology

Showing results (1-10 of 852) with videos related to

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Molecular Syndromology|June 16, 2022
New Report of a Different Clinical Presentation of <i>CD151</i> Splicing Mutation (c.351+2T>C): Could <i>TSPAN11</i> be Considered as a Potential Modifier Gene for <i>CD151</i>?Nasim Rahmani, Saeed Talebi, Rozita Hoseini, et al.
Molecular Syndromology|June 16, 2022
First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25)Sinem Yalcintepe, Drenushe Zhuri, Hazal Sezginer Guler, et al.
Molecular Syndromology|January 2, 2023
Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in <i>ASPM</i> and <i>WDR62</i> GenesHilmi Bolat, Safiye G Sağer, Ayberk Türkyılmaz, et al.
Molecular Syndromology|January 2, 2023
Duplication of 12q24.21q24.33 in a Girl with Epilepsy, Expanding the PhenotypeLautaro Plaza-Benhumea, Monica D Martin-de Saro, Cesar G Sanchez-Acosta, et al.
Molecular Syndromology|January 2, 2023
First Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current LiteratureŞenol Demir, Mehmet A Söylemez, Ahmet Arman, et al.
Molecular Syndromology|January 2, 2023
Rare Transient Infantile Hypertriglyceridemia with Hypoglycemia and Insulin Resistance Caused by a Novel <i>GPD1</i> MutationYanfang Tan, Wenxian Ouyang, Yuting Ma, et al.
Molecular Syndromology|April 14, 2022
Genetic Characterization of Hereditary Cancer Syndromes Based on Targeted Next-Generation SequencingPelin Ercoskun, Cigdem Yuce Kahraman, Guller Ozkan, et al.
Molecular Syndromology|April 14, 2022
<i>KMT2B</i>-Related Dystonia: Challenges in Diagnosis and TreatmentAyşe Aksoy, Özlem Yayıcı Köken, Ahmet Cevdet Ceylan, et al.
Molecular Syndromology|April 14, 2022
Evaluation of the Effect of <i>FOXO3</i> rs13217795 Genotype and Minor Allele (C) on Clinical Chemistry and Genetic Risk of Diabetes Among the Elderly Individuals from Northern IndiaSartaj Hussain, Suraj Singh Yadav, Monisha Banerjee, et al.
Molecular Syndromology|April 14, 2022
Bi-Allelic c.1746G>T; p.Leu582= Variants in <i>TUBGCP4</i> in a Boy with Autism: Clinical Data and Literature ReviewDaniel Martín Fernández-Mayoralas, Jacobo Albert, Sara López-Martín, et al.
Pageof 86

Showing results (1-10 of 852) with videos related to

Sort By:
Pageof 86
Molecular Syndromology|June 16, 2022
New Report of a Different Clinical Presentation of <i>CD151</i> Splicing Mutation (c.351+2T>C): Could <i>TSPAN11</i> be Considered as a Potential Modifier Gene for <i>CD151</i>?Nasim Rahmani, Saeed Talebi, Rozita Hoseini, et al.
Molecular Syndromology|June 16, 2022
First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25)Sinem Yalcintepe, Drenushe Zhuri, Hazal Sezginer Guler, et al.
Molecular Syndromology|January 2, 2023
Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in <i>ASPM</i> and <i>WDR62</i> GenesHilmi Bolat, Safiye G Sağer, Ayberk Türkyılmaz, et al.
Molecular Syndromology|January 2, 2023
Duplication of 12q24.21q24.33 in a Girl with Epilepsy, Expanding the PhenotypeLautaro Plaza-Benhumea, Monica D Martin-de Saro, Cesar G Sanchez-Acosta, et al.
Molecular Syndromology|January 2, 2023
First Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current LiteratureŞenol Demir, Mehmet A Söylemez, Ahmet Arman, et al.
Molecular Syndromology|January 2, 2023
Rare Transient Infantile Hypertriglyceridemia with Hypoglycemia and Insulin Resistance Caused by a Novel <i>GPD1</i> MutationYanfang Tan, Wenxian Ouyang, Yuting Ma, et al.
Molecular Syndromology|April 14, 2022
Genetic Characterization of Hereditary Cancer Syndromes Based on Targeted Next-Generation SequencingPelin Ercoskun, Cigdem Yuce Kahraman, Guller Ozkan, et al.
Molecular Syndromology|April 14, 2022
<i>KMT2B</i>-Related Dystonia: Challenges in Diagnosis and TreatmentAyşe Aksoy, Özlem Yayıcı Köken, Ahmet Cevdet Ceylan, et al.
Molecular Syndromology|April 14, 2022
Evaluation of the Effect of <i>FOXO3</i> rs13217795 Genotype and Minor Allele (C) on Clinical Chemistry and Genetic Risk of Diabetes Among the Elderly Individuals from Northern IndiaSartaj Hussain, Suraj Singh Yadav, Monisha Banerjee, et al.
Molecular Syndromology|April 14, 2022
Bi-Allelic c.1746G>T; p.Leu582= Variants in <i>TUBGCP4</i> in a Boy with Autism: Clinical Data and Literature ReviewDaniel Martín Fernández-Mayoralas, Jacobo Albert, Sara López-Martín, et al.
Pageof 86