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Clinical Genetics
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November 1, 1995
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome
A E Turco, S Rossetti, M O Biasi, et al.
International Journal of Immunopathology and Pharmacology
|
October 13, 2012
Vav1 haploinsufficiency in a common variable immunodeficiency patient with defective T-cell function
N Capitani, F Ariani, A Amedei, et al.
Journal of Submicroscopic Cytology and Pathology
|
December 16, 1998
Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study
A Federico, M T Dotti, E Cardaioli, et al.
Contributions to Nephrology
|
January 1, 1997
Molecular diagnosis of Alport syndrome: the experience in Siena
A Renieri, M Bruttini, M Piccini, et al.
BMC Nephrology
|
February 28, 2019
Non-collagen genes role in digenic Alport syndrome
S Daga, C Fallerini, S Furini, et al.
Journal of Medical Genetics
|
February 4, 2005
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms
E Scala, F Ariani, F Mari, et al.
Journal of Medical Genetics
|
May 16, 2002
Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR)
I Meloni, F Vitelli, L Pucci, et al.
Journal of Medical Genetics
|
May 23, 1998
Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?
J J Jonsson, A Renieri, P G Gallagher, et al.
Clinical Genetics
|
July 25, 2012
Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit
F Ariani, F Mari, S Amitrano, et al.
Nature Genetics
|
May 1, 1995
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome
M T Bassi, M V Schiaffino, A Renieri, et al.
Page
of 11
Search research articles
Search
Showing results (61-70 of 106) with videos related to
Sort By:
Page
of 11
Clinical Genetics
|
November 1, 1995
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome
A E Turco, S Rossetti, M O Biasi, et al.
International Journal of Immunopathology and Pharmacology
|
October 13, 2012
Vav1 haploinsufficiency in a common variable immunodeficiency patient with defective T-cell function
N Capitani, F Ariani, A Amedei, et al.
Journal of Submicroscopic Cytology and Pathology
|
December 16, 1998
Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study
A Federico, M T Dotti, E Cardaioli, et al.
Contributions to Nephrology
|
January 1, 1997
Molecular diagnosis of Alport syndrome: the experience in Siena
A Renieri, M Bruttini, M Piccini, et al.
BMC Nephrology
|
February 28, 2019
Non-collagen genes role in digenic Alport syndrome
S Daga, C Fallerini, S Furini, et al.
Journal of Medical Genetics
|
February 4, 2005
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms
E Scala, F Ariani, F Mari, et al.
Journal of Medical Genetics
|
May 16, 2002
Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR)
I Meloni, F Vitelli, L Pucci, et al.
Journal of Medical Genetics
|
May 23, 1998
Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?
J J Jonsson, A Renieri, P G Gallagher, et al.
Clinical Genetics
|
July 25, 2012
Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit
F Ariani, F Mari, S Amitrano, et al.
Nature Genetics
|
May 1, 1995
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome
M T Bassi, M V Schiaffino, A Renieri, et al.
Page
of 11