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M Seri

Showing results (61-70 of 73) with videos related to

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Clinical Genetics|September 27, 2007
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander diseaseF Caroli, R Biancheri, M Seri, et al.
Clinical Neuroradiology|September 29, 2021
MR Brain Screening in ADPKD Patients : To Screen or not to Screen?I Capelli, M Zoli, M Righini, et al.
Epilepsy & Behavior : E&B|March 20, 2024
Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsiesL Ferri, V Menghi, L Licchetta, et al.
Human Mutation|January 1, 1997
Frequency of RET mutations in long- and short-segment Hirschsprung diseaseM Seri, L Yin, V Barone, et al.
Molecular Endocrinology (Baltimore, Md.)|August 26, 1998
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different originsH S Scott, M Heino, P Peterson, et al.
Neurogastroenterology and Motility|April 13, 2018
INPP4B overexpression and c-KIT downregulation in human achalasiaE Bonora, F Bianco, A Stanzani, et al.
Gene|January 30, 2002
Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegiaC Nobile, B Hinzmann, P Scannapieco, et al.
Neuromuscular Disorders : NMD|January 5, 2000
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathyC Wallgren-Pettersson, K Pelin, P Hilpelä, et al.
Nature Genetics|September 6, 2000
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome ConsortiumM Seri, R Cusano, S Gangarossa, et al.
European Journal of Human Genetics : EJHG|November 5, 1998
A new candidate region for the positional cloning of the XLP geneA Bolino, L Yin, M Seri, et al.
Pageof 8

Showing results (61-70 of 73) with videos related to

Sort By:
Pageof 8
Clinical Genetics|September 27, 2007
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander diseaseF Caroli, R Biancheri, M Seri, et al.
Clinical Neuroradiology|September 29, 2021
MR Brain Screening in ADPKD Patients : To Screen or not to Screen?I Capelli, M Zoli, M Righini, et al.
Epilepsy & Behavior : E&B|March 20, 2024
Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsiesL Ferri, V Menghi, L Licchetta, et al.
Human Mutation|January 1, 1997
Frequency of RET mutations in long- and short-segment Hirschsprung diseaseM Seri, L Yin, V Barone, et al.
Molecular Endocrinology (Baltimore, Md.)|August 26, 1998
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different originsH S Scott, M Heino, P Peterson, et al.
Neurogastroenterology and Motility|April 13, 2018
INPP4B overexpression and c-KIT downregulation in human achalasiaE Bonora, F Bianco, A Stanzani, et al.
Gene|January 30, 2002
Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegiaC Nobile, B Hinzmann, P Scannapieco, et al.
Neuromuscular Disorders : NMD|January 5, 2000
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathyC Wallgren-Pettersson, K Pelin, P Hilpelä, et al.
Nature Genetics|September 6, 2000
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome ConsortiumM Seri, R Cusano, S Gangarossa, et al.
European Journal of Human Genetics : EJHG|November 5, 1998
A new candidate region for the positional cloning of the XLP geneA Bolino, L Yin, M Seri, et al.
Pageof 8