Search Results - "Journal of Down Syndrome & Chromosome Abnormalities" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Variation in the Zinc Finger of PRDM9 is Associated with the Absence of Recombination along Nondisjoined Chromosomes 21 of Maternal Origin

Variation in the Zinc Finger of PRDM9 is Associated with the Absence of Recombination along Nondisjoined Chromosomes 21 of Maternal Origin

by Oliver, Tiffany Renee, Middlebrooks, Candace, Harden, Ariel, Scott, Nyeisha, Johnson, Blair, Jones, Jillian, Walker, Christin, Wilkerson, Corinthia, Saffold, Sha-Hanna, Akinseye, Abisola, Smith, Tunde, Feingold, Eleanor, Sherman, Stephanie L
Published in Journal of Down Syndrome & Chromosome Abnormalities (01.12.2016)

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Journal Article

Beyond Trisomy 21: Phenotypic Variability in People with Down Syndrome Explained by Further Chromosome Mis-segregation and Mosaic Aneuploidy

Beyond Trisomy 21: Phenotypic Variability in People with Down Syndrome Explained by Further Chromosome Mis-segregation and Mosaic Aneuploidy

by Potter, Huntington
Published in Journal of Down Syndrome & Chromosome Abnormalities (2016)

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Journal Article

Investigating Oral Reading Miscues Produced by Students with Down Syndrome: A Descriptive Study

Investigating Oral Reading Miscues Produced by Students with Down Syndrome: A Descriptive Study

by Yeager C, Pelatti, Sandra, Guevara
Published in Journal of Down Syndrome & Chromosome Abnormalities (2018)

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Quality of Life of Adults with Down syndrome in Virginia

Quality of Life of Adults with Down syndrome in Virginia

by Allahyari, Talat, Branigina, Michael E Wolf
Published in Journal of Down Syndrome & Chromosome Abnormalities (2018)

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Transient Myeloproliferative Disorder in Neonates with Down syndrome: Case Report and Review

Transient Myeloproliferative Disorder in Neonates with Down syndrome: Case Report and Review

by S, Polacov, A, Bertoldi, I, Sosa, C, Hollmann, D, Lerda
Published in Journal of Down Syndrome & Chromosome Abnormalities (2018)

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Pediatric Comorbidities and Medical Complications Identified in Children with Down Syndrome

Pediatric Comorbidities and Medical Complications Identified in Children with Down Syndrome

by Hickey, Fran, Warmerdam, Kristine Wolter, Hickey, Erin, Yoon, James, Daniels, Dee
Published in Journal of Down Syndrome & Chromosome Abnormalities (2017)

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MAOA Gene Associated with Aggressive Behavior in Humans

MAOA Gene Associated with Aggressive Behavior in Humans

by V, Ramakrishnan, Husain RS, Akram
Published in Journal of Down Syndrome & Chromosome Abnormalities (2017)

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Congenital Visceral Malformations in Children with Down Syndrome (DS) Followed in the Pediatric Unit of the CNHU, Cotonou, Bénin

Congenital Visceral Malformations in Children with Down Syndrome (DS) Followed in the Pediatric Unit of the CNHU, Cotonou, Bénin

by Jules Alao, Maroufou, Mahouna Adjagba, Philippe, Yekpe, Patricia
Published in Journal of Down Syndrome & Chromosome Abnormalities (2017)

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Mutation Spectrum of Survival Motor Neuron Gene in Spinal Muscular Atrophy

Mutation Spectrum of Survival Motor Neuron Gene in Spinal Muscular Atrophy

by Rad, Isa Abdi
Published in Journal of Down Syndrome & Chromosome Abnormalities (2017)

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Emerging Roles for Human MMS21, NSMCE2, in Development and Disease

Emerging Roles for Human MMS21, NSMCE2, in Development and Disease

by Laloraya, Shikha
Published in Journal of Down Syndrome & Chromosome Abnormalities (2017)

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Perception of Biological Motion Speed in Individuals with Down Syndrome

Perception of Biological Motion Speed in Individuals with Down Syndrome

by Tolentino Castro, J Walter, Riddell, Hugh, Wagner, Heiko
Published in Journal of Down Syndrome & Chromosome Abnormalities (2017)

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Methyl Tetra Hydro Folate Reductase Enzyme Polymorphism in the Mothers with Previous Autosomal Aneuploidy Birth in the Indigenous African Population of Northern Region of South Africa

Methyl Tetra Hydro Folate Reductase Enzyme Polymorphism in the Mothers with Previous Autosomal Aneuploidy Birth in the Indigenous African Population of Northern Region of South Africa

by Duma, Zamathombeni, Khine, Aye Aye
Published in Journal of Down Syndrome & Chromosome Abnormalities (2017)

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Sole Translocation (6;9)(p23;q34) in AML-ETO Negative AML-M2 Patient

Sole Translocation (6;9)(p23;q34) in AML-ETO Negative AML-M2 Patient

by Trivedi, Pina J, Patel, Dharmesh M, Varma, Priya, Brahmbhatt, Manisha M, Patel, Prabhudas S
Published in Journal of Down Syndrome & Chromosome Abnormalities (2017)

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Individual Risk Detection of Developing Cognitive Decline and Dementia in Adults with Down’s Syndrome

Individual Risk Detection of Developing Cognitive Decline and Dementia in Adults with Down’s Syndrome

by Licastro, Federico, Porcellini, Elisa
Published in Journal of Down Syndrome & Chromosome Abnormalities (2017)

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Post Genomics: towards a Personalized Approach to Chromosome Abnormalities

Post Genomics: towards a Personalized Approach to Chromosome Abnormalities

by Iourov, Ivan Y
Published in Journal of Down Syndrome & Chromosome Abnormalities (2016)

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Information Processing and Motor Control in Down Syndrome

Information Processing and Motor Control in Down Syndrome

by Horvat, Michael, Croce, Ron, Fallaize, Ashley
Published in Journal of Down Syndrome & Chromosome Abnormalities (2016)

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The Role of Casein Kinase 1 in Meiosis

The Role of Casein Kinase 1 in Meiosis

by Zhao, Yue Fang, Guang Liang, Cheng
Published in Journal of Down Syndrome & Chromosome Abnormalities (2016)

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Journal Article

Association of Family History of Type 2 Diabetes with COMT Gene Polymorphism (I/D) in Pakistani Population

Association of Family History of Type 2 Diabetes with COMT Gene Polymorphism (I/D) in Pakistani Population

by Zain, Maryam, Awan, Fazli Rabbi, Baig, Shahid Mahmood
Published in Journal of Down Syndrome & Chromosome Abnormalities (2016)

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Journal Article

A Rare Complex Structural Chromosomal Anomaly in Mosaic Due to the Instability of a Derivative Chromosome 18 in a Female Infertile Patient

A Rare Complex Structural Chromosomal Anomaly in Mosaic Due to the Instability of a Derivative Chromosome 18 in a Female Infertile Patient

by Lauricella, Salvatrice A, Buse, Martina, Cavani, Simona
Published in Journal of Down Syndrome & Chromosome Abnormalities (2016)

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Efficient DNA Extraction Protocol for Single Nucleotide Polymorphisms Genotyping in Down Syndrome

Efficient DNA Extraction Protocol for Single Nucleotide Polymorphisms Genotyping in Down Syndrome

by Barboza, Hazel N, Aprigio, Joissy, Araujo, Carolina Felix
Published in Journal of Down Syndrome & Chromosome Abnormalities (2016)

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