نتائج البحث - David H. Ledbetter
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Copy Number Variants, Aneuploidies, and Human Disease حسب Alastair J. Martin, Brianne Kirkpatrick, David H. Ledbetter
منشور في 2015Revisão -
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Comparative Genomic Hybridization–Array Analysis Enhances the Detection of Aneuploidies and Submicroscopic Imbalances in Spontaneous Miscarriages حسب Anthony J. Schaeffer, June Chung, Konstantina Heretis, Andrew Wong, David H. Ledbetter, Christa Lese Martin
منشور في 2004Artigo -
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Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11–q13): molecular diagnosis and mechanism of uniparental disomy حسب Apiwat Mutirangura, Frank Greenberg, Merlin G. Butler, Sue Malcolm, Robert D. Nicholls, Aravinda Chakravarti, David H. Ledbetter
منشور في 1993Artigo -
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Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker Syndrome حسب Cristiana Lo Nigro, Samuel S. Chong, Ann C. M. Smith, William B. Dobyns, Rosalba Carrozzo, David H. Ledbetter
منشور في 1997Artigo -
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Subcortical Band Heterotopia in Rare Affected Males Can be Caused by Missense Mutations in DCX (XLIS) or LIS1 حسب Daniela T. Pilz, J. Kuć, Naomichi Matsumoto, Joann Bodurtha, B. Bernadi, C. A. Tassinari, William B. Dobyns, David H. Ledbetter
منشور في 1999Artigo -
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أدوات البحث:
موضوعات ذات صلة
Biology
Genetics
Gene
Medicine
Genome
Phenotype
Mutation
Chromosome
Autism
Internal medicine
Bioinformatics
Psychology
Psychiatry
Computational biology
Copy-number variation
Computer science
Exome sequencing
Genotype
Autism spectrum disorder
Environmental health
Population
Intellectual disability
Gene expression
Karyotype
Lissencephaly
Molecular biology
Single-nucleotide polymorphism
Gene duplication
Genetic testing
Pathology