L. Dosa

发表

Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family

G. Novelli, A. Botta, A. Morrone, 2020, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Michael F. Wangler, E. Haan, E. Zackai, 2019, Human mutation.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Michael F. Wangler, E. Zackai, David T. Miller, 2018, Genetics in Medicine.

Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome

S. Giglio, F. Chiarelli, A. Verrotti, 2016, International journal of endocrinology.

Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: prevalence of a novel mutation.

A. L. Bulotta, F. Baldinotti, P. Simi, 2013, Gene.

Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability

J. Vermeesch, P. Rubegni, M. Fimiani, 2015, Brain and Development.

Triple X syndrome and puberty: focus on the hypothalamus-hypophysis-gonad axis.

E. Lapi, M. de Martino, M. Di Tommaso, 2016, Fertility and sterility.

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

F. Brancati, G. Ghiggeri, S. Feriozzi, 2014, Clinical Genetics.

Pregnancy in Alport syndrome: A report of two differently-evolving cases

F. Anglani, A. Zambon, D. Del Prete, 2014, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

J. Crolla, A. Collins, B. Gener, 2012, European journal of medical genetics.

Advances in Alport syndrome diagnosis using next-generation sequencing

G. Garosi, M. Clementi, M. C. Epistolato, 2011, European Journal of Human Genetics.

Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism

T. Hadjistilianou, D. Galimberti, A. Renieri, 2015, European Journal of Human Genetics.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Michael F. Wangler, David T. Miller, B. Korf, 2018, Genetics in Medicine.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotypeâ€“phenotype correlation

Michael F. Wangler, David T. Miller, B. Korf, 2019 .

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

F. Brancati, G. Ghiggeri, S. Feriozzi, 2014, Clinical genetics.