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Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes
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Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

Aref-Eshghi, Erfan ; Rodenhiser, David I. ; Schenkel, Laila C. ; Lin, Hanxin ; Skinner, Cindy ; Ainsworth, Peter ; Paré, Guillaume ; Hood, Rebecca L. ; Bulman, Dennis E. ; Kernohan, Kristin D. ; Boycott, Kym M. ; Campeau, Philippe M. ; Schwartz, Charles ; Sadikovic, Bekim

American journal of human genetics, 2018-01, Vol.102 (1), p.156-174 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Epigenetic Etiology of Intellectual Disability
Epigenetic Etiology of Intellectual Disability
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Epigenetic Etiology of Intellectual Disability

Iwase, Shigeki ; Bérubé, Nathalie G ; Zhou, Zhaolan ; Kasri, Nael Nadif ; Battaglioli, Elena ; Scandaglia, Marilyn ; Barco, Angel

The Journal of neuroscience, 2017-11, Vol.37 (45), p.10773-10782 [Periódico revisado por pares]

United States: Society for Neuroscience

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3
Successful treatment of two relapsed patients with t(11;19)(q23;p13) acute myeloid leukemia by CLAE chemotherapy sequential with allogeneic hematopoietic stem cell transplantation: Case reports
Successful treatment of two relapsed patients with t(11;19)(q23;p13) acute myeloid leukemia by CLAE chemotherapy sequential with allogeneic hematopoietic stem cell transplantation: Case reports
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Successful treatment of two relapsed patients with t(11;19)(q23;p13) acute myeloid leukemia by CLAE chemotherapy sequential with allogeneic hematopoietic stem cell transplantation: Case reports

Tao, Shandong ; Song, Lixiao ; Deng, Yuan ; Chen, Yue ; Gan, Yimin ; Li, Yunjie ; Ding, Yihan ; Zhang, Zhe ; Ding, Banghe ; He, Zhengmei ; Wang, Chunling ; Yu, Liang

Oncology letters, 2021-03, Vol.21 (3), p.178-178, Article 178

Greece: Spandidos Publications

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4
Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C
Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C
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Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C

Schenkel, Laila C ; Aref-Eshghi, Erfan ; Skinner, Cindy ; Ainsworth, Peter ; Lin, Hanxin ; Paré, Guillaume ; Rodenhiser, David I ; Schwartz, Charles ; Sadikovic, Bekim

Clinical epigenetics, 2018-02, Vol.10 (1), p.21-21, Article 21 [Periódico revisado por pares]

Germany: BioMed Central Ltd

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5
Experience with the Ketogenic Diet in a Boy with CLCN4 Related Neurodevelopmental Disorder
Experience with the Ketogenic Diet in a Boy with CLCN4 Related Neurodevelopmental Disorder
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Experience with the Ketogenic Diet in a Boy with CLCN4 Related Neurodevelopmental Disorder

Sager, G ; Yukselmis, U ; Güzel, O ; Turkyilmaz, A ; Akcay, M

Balkan journal of medical genetics, 2023-12, Vol.26 (2), p.77-82 [Periódico revisado por pares]

Poland: Sciendo

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6
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations
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Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations

Lintas, Carla ; Bottillo, Irene ; Sacco, Roberto ; Azzarà, Alessia ; Cassano, Ilaria ; Ciccone, Maria Pia ; Grammatico, Paola ; Gurrieri, Fiorella

Genes, 2022-12, Vol.13 (12), p.2266 [Periódico revisado por pares]

Switzerland: MDPI AG

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7
Mutations in the KDM5C ARID Domain and Their Plausible Association with Syndromic Claes-Jensen-Type Disease
Mutations in the KDM5C ARID Domain and Their Plausible Association with Syndromic Claes-Jensen-Type Disease
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Mutations in the KDM5C ARID Domain and Their Plausible Association with Syndromic Claes-Jensen-Type Disease

Peng, Yunhui ; Suryadi, Jimmy ; Yang, Ye ; Kucukkal, Tugba G ; Cao, Weiguo ; Alexov, Emil

International journal of molecular sciences, 2015-11, Vol.16 (11), p.27270-27287 [Periódico revisado por pares]

Switzerland: MDPI AG

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8
Ochratoxin A in wines and grape juices commercialized in the city of São Paulo, Brazil
Ochratoxin A in wines and grape juices commercialized in the city of São Paulo, Brazil
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Ochratoxin A in wines and grape juices commercialized in the city of São Paulo, Brazil

Shundo, Luzia(Instituto Adolfo Lutz Seção de Química Biológica) ; Almeida, Adriana P. de(Instituto Adolfo Lutz Seção de Química Biológica) ; Alaburda, Janete(Instituto Adolfo Lutz Seção de Química Biológica) ; Ruvieri, Valter(Instituto Adolfo Lutz Seção de Química Biológica) ; Navas, Sandra A.(Instituto Adolfo Lutz Seção de Química Biológica) ; Lamardo, Leda C.A.(Instituto Adolfo Lutz Seção de Química Biológica) ; Sabino, Myrna(Instituto Adolfo Lutz Seção de Química Biológica)

Brazilian journal of microbiology, 2006-12, Vol.37 (4), p.533-537 [Periódico revisado por pares]

São Paulo: Sociedade Brasileira de Microbiologia

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9
Trans fatty acids, insulin sensitivity and type 2 diabetes
Trans fatty acids, insulin sensitivity and type 2 diabetes
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Trans fatty acids, insulin sensitivity and type 2 diabetes

Risérus, Ulf

Scandinavian journal of food and nutrition, 2006, Vol.50 (4)

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