Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.
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22q11 deletion syndrome: current perspective.A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGHClinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three familiesReproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome.22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening.Risk factors and the prevention of oral clefts.Improving the Diagnosis of Children with 22q11.2 Deletion Syndrome: A Single-center Experience from Serbia.Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases.Clinical Features in Patients With 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities.Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review.Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes.[Diagnosis of 22q11.2 deletion syndrome in the context of newly developed psychosis].Schizophrenia in DiGeorge Syndrome: A Unique Case Report
P2860
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P2860
Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.
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article científic
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article scientifique
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articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
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artikull shkencor
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artículo científico
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name
Defining new guidelines for sc ...... and review of the literature.
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type
label
Defining new guidelines for sc ...... and review of the literature.
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prefLabel
Defining new guidelines for sc ...... and review of the literature.
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P2093
P2860
P50
P1476
Defining new guidelines for sc ...... s and review of the literature
@en
P2093
Agnes C Fett-Conte
Ana Paula Damiano
Clarissa de R Dantas
Erlane M Ribeiro
Gabriela F Leal
Iscia Lopes-Cendes
Josiane Souza
Marshall I B Fontes
Társis P Vieira
Têmis M Félix
P2860
P2888
P304
P356
10.1007/S00431-013-1964-0
P50
P577
2013-02-26T00:00:00Z
P5875
P6179
1019076167