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NSD1 / Weaver syndrome / Overgrowth syndrome / DiGeorge syndrome / Perlman syndrome / Chromosome 5 / Beckwith–Wiedemann syndrome / Dolichocephaly / Health / Syndromes / Sotos syndrome


Orphanet Journal of Rare Diseases BioMed Central
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City

Deardorff / Chiu / Kobe / Compton / Shaw / Stumpel / Raymond / Leschot / Sanlaville / Hamel / Talbot / /

Company

Tomkins / Brown / Creative Commons / BioMed Central Ltd. / /

Continent

Europe / /

Country

Japan / United States / /

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Facility

Hospital Necker-Enfants Malades / Temple K / Temple IK / /

IndustryTerm

endocrine and paracrine systems / imaging / otitis media / food / treatment of hypoglycemia / /

MedicalCondition

neoplasms / cystic kidneys / Rare Diseases / non progressive neurological dysfunction / Beckwith-Wiedemann syndrome / conductive hearing loss / seizures / learning disability / Acromegaly / saccrococcygeal teratomas / ALS / gastroesophageal reflux / Abstract Sotos syndrome / neuroblastoma / small cell lung cancer / Gigantism / febrile seizures / learning disabilities / speech delay / otitis media / Constipation / hypoglycemia / malar flushing / scoliosis / Neurofibromatosis I / Recurrent upper respiratory infections / Homocystinuria / vesico-ureteral reflux / apparent hypertelorism / ganglioneuroma / congenital heart defects / tumor / Cancer / tumors / Disease / neoplasm / acute lymphocytic leukemia / cryptorchidism / mental deficiency / neonatal jaundice / pre-eclampsia / respiratory infections / Fragile X syndrome / vomiting / toxemia / Marfan syndrome / sacrocoggygeal teratomas / hypotonia / irritation / acute myelocytic leukemia / ganglioglioma / syndrome / Bannayan-Zonana syndrome / Sotos syndrome / /

MedicalTreatment

tube feeding / phototherapy / counseling / surgery / occupational therapy / bypass / speech therapy / /

Organization

Department of Medical Genetic / /

Person

Gracia Bouthelier / Van Hove / Van de Laar / Van Duyvenvoorde / Geneviève Baujat / Valérie Cormier-Daire / Della Monica / Van Doorn / Van den Brande / Van Beers / Arch Dis Child / Enfants Malades / Paul Nurse / /

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Position

psychologist / scientist / head / Corresponding author / Nurse / Major / Marshall / /

ProgrammingLanguage

EC / /

ProvinceOrState

New Jersey / British Columbia / Connecticut / Montana / South Carolina / Florida / North Carolina / Massachusetts / /

Region

West Europe / /

Technology

hybridization / DNA Chip / fracturing / Genotype / /

URL

http /

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