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Luciana Musante

Showing results (1-10 of 50) with videos related to

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Trends in Genetics : TIG|November 2, 2013
Genetics of recessive cognitive disordersLuciana Musante, H Hilger Ropers
Gene|May 18, 2004
cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2Luciana Musante, Oliver Bartsch, Hans-Hilger Ropers, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|October 16, 2020
Description of a peculiar alternating ictal electroclinical pattern in a young boy with a novel SPATA5 mutationCaterina Zanus, Paola Costa, Flavio Faletra, et al.
Human Mutation|September 16, 2014
Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutationsHao Hu, Thomas F Wienker, Luciana Musante, et al.
Genes|November 11, 2022
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical PicturesBeatrice Spedicati, Anna Morgan, Giulia Pianigiani, et al.
Archives of Iranian Medicine|March 17, 2015
New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian familiesMorteza Oladnabi, Luciana Musante, Farzaneh Larti, et al.
European Journal of Human Genetics : EJHG|November 10, 2016
Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)Hao Hu, Christoph Hübner, Zoltan Lukacs, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|June 14, 2025
Electro-clinical changes during CASK-related encephalopathy evolutionElena Freri, Davide Caputo, Andrea Stabile, et al.
Cell Cycle (Georgetown, Tex.)|April 3, 2014
Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutationsHao Hu, Vanessa Suckow, Luciana Musante, et al.
Archives of Iranian Medicine|October 8, 2015
Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with AtaxiaRoshanak Jazayeri, Hao Hu, Zohreh Fattahi, et al.
Pageof 5

Showing results (1-10 of 50) with videos related to

Sort By:
Pageof 5
Trends in Genetics : TIG|November 2, 2013
Genetics of recessive cognitive disordersLuciana Musante, H Hilger Ropers
Gene|May 18, 2004
cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2Luciana Musante, Oliver Bartsch, Hans-Hilger Ropers, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|October 16, 2020
Description of a peculiar alternating ictal electroclinical pattern in a young boy with a novel SPATA5 mutationCaterina Zanus, Paola Costa, Flavio Faletra, et al.
Human Mutation|September 16, 2014
Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutationsHao Hu, Thomas F Wienker, Luciana Musante, et al.
Genes|November 11, 2022
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical PicturesBeatrice Spedicati, Anna Morgan, Giulia Pianigiani, et al.
Archives of Iranian Medicine|March 17, 2015
New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian familiesMorteza Oladnabi, Luciana Musante, Farzaneh Larti, et al.
European Journal of Human Genetics : EJHG|November 10, 2016
Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)Hao Hu, Christoph Hübner, Zoltan Lukacs, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|June 14, 2025
Electro-clinical changes during CASK-related encephalopathy evolutionElena Freri, Davide Caputo, Andrea Stabile, et al.
Cell Cycle (Georgetown, Tex.)|April 3, 2014
Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutationsHao Hu, Vanessa Suckow, Luciana Musante, et al.
Archives of Iranian Medicine|October 8, 2015
Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with AtaxiaRoshanak Jazayeri, Hao Hu, Zohreh Fattahi, et al.
Pageof 5