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A Ferlini

Showing results (31-40 of 88) with videos related to

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Acta Oto-Laryngologica. Supplementum|June 29, 2004
Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated alleleE Gualandi, A Ravani, A Berto, et al.
Neuromuscular Disorders : NMD|May 1, 1997
Prenatal diagnosis in merosin-deficient congenital muscular dystrophyI Naom, C Sewry, M D'Alessandro, et al.
Clinical Genetics|January 1, 1993
Characterization of a deleted Y chromosome in a male with Turner stigmataE Calzolari, P Patracchini, P Palazzi, et al.
Biochemical Society Transactions|May 1, 1996
The protein defect in congenital muscular dystrophyC A Sewry, I Naom, M D'Alessandro, et al.
European Journal of Medical Genetics|April 28, 2024
Mother and daughter with Kenny-Caffey syndrome: the adult phenotypeL Tonelli, M Sanchini, A Margutti, et al.
Brain : a Journal of Neurology|December 28, 1999
Mutations in the laminin alpha2-chain gene in two children with early-onset muscular dystrophyI Naom, M D'alessandro, C A Sewry, et al.
American Journal of Medical Genetics|December 4, 1995
Hydrocephalus, skeletal anomalies, and mental disturbances in a mother and three daughters: a new syndromeA Ferlini, M Ragno, P Gobbi, et al.
Neurology|October 15, 2008
Autosomal recessive myosclerosis myopathy is a collagen VI disorderL Merlini, E Martoni, P Grumati, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|July 5, 2005
Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutationF Salvi, F Pastorelli, R Plasmati, et al.
Prenatal Diagnosis|October 30, 2013
Prenatal genetic counseling referrals for advanced maternal age: still room for improvementE Pompilii, G Astolfi, O Calabrese, et al.
Pageof 9

Showing results (31-40 of 88) with videos related to

Sort By:
Pageof 9
Acta Oto-Laryngologica. Supplementum|June 29, 2004
Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated alleleE Gualandi, A Ravani, A Berto, et al.
Neuromuscular Disorders : NMD|May 1, 1997
Prenatal diagnosis in merosin-deficient congenital muscular dystrophyI Naom, C Sewry, M D'Alessandro, et al.
Clinical Genetics|January 1, 1993
Characterization of a deleted Y chromosome in a male with Turner stigmataE Calzolari, P Patracchini, P Palazzi, et al.
Biochemical Society Transactions|May 1, 1996
The protein defect in congenital muscular dystrophyC A Sewry, I Naom, M D'Alessandro, et al.
European Journal of Medical Genetics|April 28, 2024
Mother and daughter with Kenny-Caffey syndrome: the adult phenotypeL Tonelli, M Sanchini, A Margutti, et al.
Brain : a Journal of Neurology|December 28, 1999
Mutations in the laminin alpha2-chain gene in two children with early-onset muscular dystrophyI Naom, M D'alessandro, C A Sewry, et al.
American Journal of Medical Genetics|December 4, 1995
Hydrocephalus, skeletal anomalies, and mental disturbances in a mother and three daughters: a new syndromeA Ferlini, M Ragno, P Gobbi, et al.
Neurology|October 15, 2008
Autosomal recessive myosclerosis myopathy is a collagen VI disorderL Merlini, E Martoni, P Grumati, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|July 5, 2005
Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutationF Salvi, F Pastorelli, R Plasmati, et al.
Prenatal Diagnosis|October 30, 2013
Prenatal genetic counseling referrals for advanced maternal age: still room for improvementE Pompilii, G Astolfi, O Calabrese, et al.
Pageof 9