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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 allele
E Gualandi, A Ravani, A Berto, et al.
Neuromuscular Disorders : NMD
|
May 1, 1997
Prenatal diagnosis in merosin-deficient congenital muscular dystrophy
I Naom, C Sewry, M D'Alessandro, et al.
Clinical Genetics
|
January 1, 1993
Characterization of a deleted Y chromosome in a male with Turner stigmata
E Calzolari, P Patracchini, P Palazzi, et al.
Biochemical Society Transactions
|
May 1, 1996
The protein defect in congenital muscular dystrophy
C 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 phenotype
L 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 dystrophy
I 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 syndrome
A Ferlini, M Ragno, P Gobbi, et al.
Neurology
|
October 15, 2008
Autosomal recessive myosclerosis myopathy is a collagen VI disorder
L 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 mutation
F Salvi, F Pastorelli, R Plasmati, et al.
Prenatal Diagnosis
|
October 30, 2013
Prenatal genetic counseling referrals for advanced maternal age: still room for improvement
E Pompilii, G Astolfi, O Calabrese, et al.
Page
of 9
Search research articles
Search
Showing results (31-40 of 88) with videos related to
Sort By:
Page
of 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 allele
E Gualandi, A Ravani, A Berto, et al.
Neuromuscular Disorders : NMD
|
May 1, 1997
Prenatal diagnosis in merosin-deficient congenital muscular dystrophy
I Naom, C Sewry, M D'Alessandro, et al.
Clinical Genetics
|
January 1, 1993
Characterization of a deleted Y chromosome in a male with Turner stigmata
E Calzolari, P Patracchini, P Palazzi, et al.
Biochemical Society Transactions
|
May 1, 1996
The protein defect in congenital muscular dystrophy
C 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 phenotype
L 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 dystrophy
I 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 syndrome
A Ferlini, M Ragno, P Gobbi, et al.
Neurology
|
October 15, 2008
Autosomal recessive myosclerosis myopathy is a collagen VI disorder
L 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 mutation
F Salvi, F Pastorelli, R Plasmati, et al.
Prenatal Diagnosis
|
October 30, 2013
Prenatal genetic counseling referrals for advanced maternal age: still room for improvement
E Pompilii, G Astolfi, O Calabrese, et al.
Page
of 9