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Biology / Cytogenetics / Rare diseases / Chromosomal abnormalities / Cri du chat / 5P / Fryns Syndrome / Chromosome 5 / Monosomy / Health / Syndromes / Genetics


Orphanet Journal of Rare Diseases BioMed Central
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Porto / Verona / Vercelli / Milano / Ladas / Trieste / Denver / Berlin / Firenze / Sul / Edinburgh / /

Company

Stayer SA / Bernstein / Retief AE / Goodart SA / Simmons / Yatsenko SA / Aquila / Schonberg SA / Eaton / Goodard SA / Cox / Creative Commons / BioMed Central Ltd. / Hughes AE / /

Country

Brazil / Australia / United Kingdom / Italy / United States / /

Currency

pence / /

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Facility

S.Andrea Hospital / /

IndustryTerm

genetic counselling services / magnetic nuclear resonance imaging / genome-wide search / /

MedicalCondition

Myopia / microcephaly / Ehlers-Danlos syndrome / Foetal choroid plexus cysts / hypospadias / Rare Diseases / JE / chondrocalcinosis / syndactyly / gastroesophageal reflux / severe/moderate mental retardation / atypical cri du chat syndrome / arachnoid cyst / muscle hypotonia / Chat Syndrome / Goldenhar's syndrome / phenotype suggesting Lujan-Fryns syndrome / flat foot / Scoliosis / cridu-chat syndrome / asthma / mental retardation / severe cognitive and synaptic dysfunction / cognitive impairment / typical syndrome / open bite / cri-du-chat syndrome / Marfan syndrome / hypotonia / hypsarrhythmia / nonketotic hyperglycinemia / triventricular hydrocephalus / Lujan-Fryns syndrome / Cat-cry/ Cri-du-chat syndrome / Dandy-Walker syndrome / severe mental retardation / mild mental retardation / hypertelorism / infantile spasms / Abstract The Cri du Chat syndrome / autism spectrum disorder / monosomy 5p syndrome / DandyWalker syndrome / Hypersensitivity / speech delay / arachnoid cyst causing triventricular hydrocephalus / MS / Cri du Chat syndrome / infections / divergent strabismus / hypsarrhythmia / dental malocclusion / 5p-syndrome / disease / cryptorchidism / rare disease / Recurrent respiratory and intestinal infections / sensory-neural deafness / contiguous gene deletion syndrome / inguinal hernia / 5p deletion syndrome / cri-du-chat syndromes / mosaic cri du chat syndrome / azoospermia / syndrome / cataract / /

MedicalTreatment

physical therapy / speech therapy / counseling / counselling / vaccinations / /

NaturalFeature

Iba-Zizen MT / /

Organization

International Association for the Scientific Study / S.Andrea Hospital / Harvard / Paediatrics Department / Congress / Genetics Unit / /

Person

Arch Dis / Luigi / G. Andria / R. Magistrelli / D. Caufin / F. Mollica / Molina Gomes / M.G. Pirastru / Chiara Castronovo / Renata Mayer / C. Brambilla / Elena Favaron / P. Franceschini / G. Palka / E. Valletta / M. Martinazzi / G. Pastore / G. Pagano / Minerva Medica / Minerva Pediatr / Della Rocca / E. Tarantino / C. Borrone / Paola Cerruti Mainardi / Stefania Tamiazzo / A. Guala / S. Giovanni Rotondo / N. Weber / G. Presta / Michela Godi / M.L. Cavaliere / A. Fresia / A. Lomangino / S. Daniele del Friuli / A. Baraldi / A. Selicorni / G. Rovetta / A. Di Comite / T. Mattina / R. Lingeri / L. Chessa / A. Lumini / Federico A. Bologna / S. Provera / M. Cammarata / Walter de Gruyter / Ann Genet / F. Dagna Bricarelli / R. Tenconi / M. L. Giovannucci / A. Garau / Van Buggenhout / Paul Nurse / /

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Position

Acknowledgements The author / author / Archer / scientist / Corresponding author / Nurse / /

Product

Koss P15 Headphone/Headset / chorionic gonadotropin / Provera / /

ProgrammingLanguage

RC / /

RadioStation

Brundler AM / /

SportsLeague

International Association / /

Technology

Genotype / Genomics / hybridization / ultrasound / cloning / pdf / /

URL

http /

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