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PLoS Genetics, ISSN 1553-7390, 07/2011, Volume 7, Issue 7, pp. e1002173 - e1002173
Journal Article
Journal Article
BMJ Open, ISSN 2044-6055, 01/2019, Volume 9, Issue 1, pp. e022617 - e022617
ObjectivesShwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder. Its predominant manifestations include exocrine pancreatic insufficiency,... 
growth charts | Shwachman-diamond syndrome | genetics | Body mass index | Genetic disorders | Cognitive ability | Bone marrow | Software | Down syndrome | Mutation | Patients | Age
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2017, Volume 12, Issue 7, pp. e0180467 - e0180467
Potential bias introduced during DNA isolation is inadequately explored, although it could have significant impact on downstream analysis. To investigate this... 
GENETIC-VARIATION | WAVES | HUMAN BRAIN | MULTIDISCIPLINARY SCIENCES | TISSUES | CELL | DELETIONS | MOSAICISM | Frontal Lobe - metabolism | Oligonucleotide Array Sequence Analysis | Humans | Middle Aged | Male | Substantia Nigra - metabolism | Case-Control Studies | DNA Copy Number Variations | Polymerase Chain Reaction - methods | DNA, Mitochondrial - isolation & purification | Cell Nucleus - metabolism | DNA, Mitochondrial - genetics | Autopsy | Microarray Analysis | Aged, 80 and over | Female | Parkinson Disease - metabolism | Mitochondria - chemistry | Parkinson Disease - pathology | Substantia Nigra - chemistry | Cerebellum - metabolism | Mitochondria - metabolism | Frontal Lobe - chemistry | Comparative Genomic Hybridization | Base Composition | Polymerase Chain Reaction - standards | Aged | Brain Chemistry | Cell Nucleus - chemistry | Cerebellum - chemistry | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Genome, Human | Brain | Analysis | Genes | Genomics | Cytogenetics | Genomes | Mitochondrial DNA | Nucleotide sequencing | DNA sequencing | Cerebellum | Neurosciences | Copy number | Bias | Substantia nigra | Mapping | Single-nucleotide polymorphism | Tissues | Waves | Gene sequencing | Impact analysis | Cortex (frontal) | Bone marrow | Chromosomes | Deoxyribonucleic acid--DNA | Chloroform | Nucleotide sequence | Hematology | Abundance | College campuses | Polymerase chain reaction | Neurology | Brain research | DNA microarrays | Stem cells | Phenols | Mosaicism | Genetic testing | Gene mapping | Methods | Salting | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 08/2017, Volume 64, Issue 8, p. e26454
Journal Article
British Journal of Haematology, ISSN 0007-1048, 09/2010, Volume 150, Issue 5, pp. 632 - 633
Journal Article
Molecular Cytogenetics, ISSN 1755-8166, 2011, Volume 4, Issue 1, pp. 13 - 13
Background: The results of cytogenetic investigations on unbalanced chromosome anomalies, both constitutional and acquired, were largely improved by... 
COPY NUMBER ALTERATIONS | MENTAL-RETARDATION | ARRAY-CGH | GENETICS & HEREDITY | MYELOID-LEUKEMIA | CHROMOSOME-7 | MALIGNANCIES | CONGENITAL-ANOMALIES | CYTOGENETICS | DELETIONS | KARYOTYPE INSTABILITY | Usage | DNA microarrays | Comparative genomic hybridization | Mosaicism | Genetic aspects | Research | Single nucleotide polymorphisms
Journal Article
19.