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18 Result(s)

Result(s)sorted by
Speciality(ies)/objective(s)
(16)
(1)
(1)
(4)
(2)
(2)
Technique(s)
(3)
(1)
Purpose(s)
(18)
Quality management
(4)
(9)
Country(ies)
(1)
(2)
(4)
(1)
(1)
(9)
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Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Molecular diagnosis of growth hormone deficiency / Kowarski syndrome (GH1 gene)
    • Praxis Dr. Mato Nagel
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Sachsen
    • WEIßWASSER
    • Accreditation
    • Molecular diagnosis of growth hormone deficiency / Kowarski syndrome (GH1 gene)
    • GenteQ GmbH
    • Purpose(s) : Post-natal diagnosis
    • More information
    • GERMANY
    • Hamburg
    • HAMBURG
    • Accreditation
    • Molecular diagnosis of Short Stature (GHR, IGFALS, IGF1, IGF1R, GH1 and STAT5B gene)
    • Erasmus MC, Faculteitsgebouw
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Accreditation
    • Molecular diagnosis of isolated growth hormone deficiency types IA, IB and II (GHRHR, GH1 genes)
    • Reference Laboratory Genetics
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Molecular diagnosis of isolated growth hormone deficiency, syndromic or non-syndromic (GH, GHRHR, GHSR genes)
    • CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of nonacquired isolated growth hormone deficiency (GH1, GHRHR genes)
    • CHUS - Complejo Hospitalario Universitario de Santiago
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Galicia
    • SANTIAGO DE COMPOSTELA
    • Molecular diagnosis of nonacquired isolated growth hormone deficiency (GH1 gene)
    • Centro de Diagnóstico Biomédico - CDB
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular diagnosis of the nonacquired growth hormone deficiency. HESX1, GH1, GHRHR, GHSR genes
    • INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Madrid
    • MADRID
    • Molecular diagnosis of nonacquired isolated growth hormone deficiency (GH1 gene: sequencing and MLPA)
    • Genetaq
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Technical procedure(s) : MLPA based techniques
    • More information
    • SPAIN
    • Andalucía
    • MÁLAGA
    • MMolecular diagnosis of isolated growth hormone deficiency types IA, IB, II and short stature due to growth hormone qualitative anomaly syndrome (entire coding sequence of GH1 gene)
    • Lorgen G.P.
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • SPAIN
    • Andalucía
    • ARMILLA
    • Molecular diagnosis of growth hormone deficiency (GH1 gene)
    • Consorzio per la Genetica Molecolare Umana
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LOMBARDIA
    • MONZA
    • Molecular diagnosis of isolated growth hormone deficiency type IA (GH1 gene)
    • IMEGEN - Instituto de Medicina Genómica
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Comunidad Valenciana
    • PATERNA
    • Molecular diagnosis of nonacquired isolated growth hormone deficiency. GHRHR, GH1 genes
    • Vall d'Hebron Institut de Recerca VHIR
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA
    • Molecular diagnosis of familial unitropic pituitary deficiency (GH1, GHRHR, FSHB, LHB, LHCGR, FSHR genes)
    • Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LOMBARDIA
    • MILANO
    • Biochemical diagnosis of nanism due to growth hormone isolated deficiency
    • Spitalul de Pediatrie Copii Cluj
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • ROMANIA
    • CLUJ
    • CLUJ
    • Molecular diagnosis of growth hormone deficiency (GH gene)
    • Policlinico S. Orsola-Malpighi - Area S. Orsola
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • EMILIA ROMAGNA
    • BOLOGNA
    • Molecular diagnosis of growth hormone deficiency (GH1 gene)
    • Azienda Ospedaliera Spedali Civili di Brescia
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LOMBARDIA
    • BRESCIA
    • Biochemical diagnosis of nonacquired isolated growth hormone deficiency (analytes: GH, IGF-1)
    • Hospital de la Santa Creu i Sant Pau
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Biochemical genetics
    • Objective(s) : Analyte / Enzyme assay
    • More information
    • SPAIN
    • Cataluña
    • BARCELONA