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Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins
by
Jehee, Fernanda S.
,
de Oliveira, Valdirene T.
,
Gurgel‐Giannetti, Juliana
,
Pietra, Rafaella X.
,
Rubatino, Fernando V. M.
,
Carobin, Natália V.
,
Vianna, Gabrielle S.
,
de Freitas, Mariana L.
,
Fernandes, Karla S.
,
Ribeiro, Beatriz S. V.
,
Brüggenwirth, Hennie T.
,
Ali‐Amin, Roza
,
White, Janson J.
,
Akdemir, Zeynep C.
,
Jhangiani, Shalini N.
,
Gibbs, Richard A.
,
Lupski, James R.
,
Varela, Monica C.
,
Koiffmann, Célia
,
Rosenberg, Carla
,
Carvalho, Cláudia M. B.
Published in
American journal of medical genetics. Part A
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Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test
by
Monteiro, Rejane A.C.
,
de Freitas, Mariana L.
,
Vianna, Gabrielle S.
,
de Oliveira, Valdirene T.
,
Pietra, Rafaella X.
,
Ferreira, Luana C.A.
,
Rocha, Patrícia P.O.
,
da S. Gonçalves, Michele
,
da C. César, Giovana
,
de S. Lima, Joziele
,
Medeiros, Paula F.V.
,
Mazzeu, Juliana F.
,
Jehee, Fernanda S.
Published in
Molecular syndromology
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Identifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes
by
Vianna, Gabrielle S.
,
Freitas, Mariana L.
,
de Oliveira, Valdirene T.
,
Pietra, Rafaella X.
,
da S. Gonçalves, Michele
,
Rocha, Patrícia P.O.
,
Monteiro, Rejane A.C.
,
Ferreira, Luana C.A.
,
Xavier, Rosana R.
,
Carvalho, Andréia M.
,
de M. Lima, Patrícia R.
,
Monteiro, Maria Augusta N.P.
,
Mateo, Elvis C.
,
Giannetti, Juliana G.
,
da C. César, Giovana
,
de S. Lima, Joziele
,
Medeiros, Paula F.V.
,
Jehee, Fernanda S.
Published in
Molecular syndromology
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Journal Title
Molecular Syndromology
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American Journal Of Medical Genetics. Part A
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Subjects
Genetics & Heredity
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Life Sciences & Biomedicine
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Science & Technology
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Mlpa
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Original
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Original Article
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Adolescent
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Alternative Splicing
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Atypical Prader–Willi Syndrome
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Base Sequence - Genetics
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Blended Phenotype
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Child
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Chromosome Deletion
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Chromosomes, Human, Pair 15 - Genetics
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Comparative Genomic Hybridization
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Congenital Malformations
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Copy Number Variation
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Developmental Delay
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Diagnosis
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Dual Genetic Diagnosis
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Science Citation Index Expanded (Web Of Science)
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Ezb Free E-Journals
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Karger Journals Complete
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Pubmed Central
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Wiley Online Library Journals
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Wiley
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