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Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

VALENTE, ENZA MARIA;
2010-01-01
2010
JOURNAL OF MEDICAL GENETICS
Cell & Developmental Biology contains resources in biochemistry, molecular biology, biophysics, physiology, and pharmacology that have a specific emphasis on cellular function in eukaryotic systems. Topics of particular importance include receptor biology and signal transduction, regulation of gene expression at the cellular level, developmental genetics, developmental biology and morphogenesis, and cell-environment interactions. Resources concentrated on molecular biochemistry and molecular regulation of gene expression, as well as microscopic or histological analysis of cell or tissue samples are excluded.
Molecular Biology & Genetics considers all aspects of basic and applied genetics, including molecular genetics, prokaryotic and eukaryotic gene expression, mechanisms of mutagenesis, structure, function and regulation of genetic material. Also included are resources concerned with clinical genetics, patterns of inheritance, genetic cause, and screening and treatment of disease. Resources dealing specifically with developmentally regulated gene expression, or with signal transduction pathways that modulate gene expression at the cellular level are excluded and are covered in the Cell and Developmental Biology category.
The Pediatrics category covers resources on all aspects of clinical medicine in pediatrics. Pediatric specialties including cardiology, dermatology, gastroenterology, hematology, immunology and infectious diseases, neurology, nutrition, oncology, psychiatry, surgery, tropical medicine, urology, and nephrology are also included. Resources concerned with neonatology and adolescent medicine are also covered.
JOURNAL OF MEDICAL GENETICS
WOS:000283762600027
Comitato scientifico
Inglese
British Human Genetics Conference
SEP 06-08, 2010
Warwick, RI
Internazionale
47
S23
S23
1
B M J PUBLISHING GROUP, BRITISH MED ASSOC HOUSE
TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND
REGNO UNITO DI GRAN BRETAGNA
sì
20
info:eu-repo/semantics/conferenceObject
none
274
4 Contributo in Atti di Convegno (Proceeding)::4.2 Abstract in Atti di convegno
Logan, Clare; Valente, ENZA MARIA; Zerelli, S. Mougou; Lee, J. H.; Silhavy, J. L.; Brancati, F.; Lannicelli, M.; Travaglini, L.; Romani, S.; Illi, B.;...espandi
4.2 Abstract in Atti di convegno
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/1180801
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