B Dallapiccola|L Capra - JoVE Visualize

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Annales De Genetique|January 1, 1992

Deletion 11q23-->qter (Jacobsen syndrome). Report of three new patientsM G Obregon, R Mingarelli, M C Digilio, et al.

Journal of Submicroscopic Cytology|July 1, 1984

Transformation of human choroid cells in vitro by SV40. Ultrastructural and cytogenetic analysis of cloned cell linesG Carruba, B Dallapiccola, P Mantegazza, et al.

Annales De Genetique|January 1, 1982

t(21q21q)/r[t(21q21q)] mosaic in two unrelated patients with mild stigmata of Down's syndromeB Dallapiccola, I Bianco, V Brinchi, et al.

Clinical Genetics|April 19, 2003

Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomaliesM C Digilio, A Angioni, M De Santis, et al.

The American Journal of Cardiology|September 25, 1999

Deletion 22q11 in patients with interrupted aortic archB Marino, M C Digilio, M Persiani, et al.

Clinical Genetics|February 11, 2018

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB geneM L Dentici, A Terracciano, E Bellacchio, et al.

Human Genetics|April 1, 1996

Diagnosis of DiGeorge syndrome in nuclei released from archival autoptic heart specimens using fluorescence in situ hybridizationG Calabrese, R Mingarelli, P Francalanci, et al.

Prenatal Diagnosis|August 1, 1996

Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasiaA Mesoraca, G Pilu, A Perolo, et al.

La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics|September 1, 1992

[The correlation between the genotype and the clinical expression of cystic fibrosis]V Lucidi, G Novelli, M Castro, et al.

Human Mutation|April 24, 1999

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. OnlineF Sangiuolo, A Botta, A Mesoraca, et al.

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Showing results (201-210 of 334) with videos related to

Sort By:

Pageof 34

Annales De Genetique|January 1, 1992

Deletion 11q23-->qter (Jacobsen syndrome). Report of three new patientsM G Obregon, R Mingarelli, M C Digilio, et al.

Journal of Submicroscopic Cytology|July 1, 1984

Transformation of human choroid cells in vitro by SV40. Ultrastructural and cytogenetic analysis of cloned cell linesG Carruba, B Dallapiccola, P Mantegazza, et al.

Annales De Genetique|January 1, 1982

t(21q21q)/r[t(21q21q)] mosaic in two unrelated patients with mild stigmata of Down's syndromeB Dallapiccola, I Bianco, V Brinchi, et al.

Clinical Genetics|April 19, 2003

Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomaliesM C Digilio, A Angioni, M De Santis, et al.

The American Journal of Cardiology|September 25, 1999

Deletion 22q11 in patients with interrupted aortic archB Marino, M C Digilio, M Persiani, et al.

Clinical Genetics|February 11, 2018

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB geneM L Dentici, A Terracciano, E Bellacchio, et al.

Human Genetics|April 1, 1996

Diagnosis of DiGeorge syndrome in nuclei released from archival autoptic heart specimens using fluorescence in situ hybridizationG Calabrese, R Mingarelli, P Francalanci, et al.

Prenatal Diagnosis|August 1, 1996

Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasiaA Mesoraca, G Pilu, A Perolo, et al.

La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics|September 1, 1992

[The correlation between the genotype and the clinical expression of cystic fibrosis]V Lucidi, G Novelli, M Castro, et al.

Human Mutation|April 24, 1999

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. OnlineF Sangiuolo, A Botta, A Mesoraca, et al.

Pageof 34