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Journal of Medical Genetics, ISSN 0022-2593, 06/2017, Volume 54, Issue 6, pp. 426 - 430
Journal Article
2006, ISBN 0470029641, xiv, 359
Book
Journal Article
Journal of applied genetics, ISSN 1234-1983, 2/2017, Volume 58, Issue 1, pp. 93 - 98
...HUMAN GENETICS ORIGINAL PAPER Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome Magdalena Koczkowska 1 & Jolanta Wierzba 2... 
Life Sciences | Human Genetics | 22q11.2 deletion syndrome | NF1 microduplication syndrome | Array comparative genomic hybridization | Microbial Genetics and Genomics | 17q21.31 microdeletion syndrome | chromosome deletion | NAALADL2 | Plant Genetics & Genomics | Animal Genetics and Genomics | chromosome 6p25.3p25.2 deletion | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Hearing Loss - diagnosis | Humans | Male | Chromosome Duplication - genetics | Neurofibromatoses - genetics | Chromosomes, Human, Pair 17 - genetics | Intellectual Disability - genetics | Heart Defects, Congenital - genetics | Karyotyping | Facies | Chromosome Disorders - diagnosis | Female | Chromosomes, Human, Pair 1 - genetics | Hypertelorism - diagnosis | Abnormalities, Multiple - genetics | DiGeorge Syndrome - genetics | Chromosome Deletion | Eye Abnormalities - diagnosis | Neurofibromatoses - diagnosis | Hypertelorism - genetics | In Situ Hybridization, Fluorescence | Eye Abnormalities - genetics | Chromosomes, Human, Pair 6 - genetics | Hearing Loss - genetics | DiGeorge Syndrome - diagnosis | Comparative Genomic Hybridization | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Heart Defects, Congenital - diagnosis | Chromosome Disorders - genetics | Gene dosage | High resolution | Test procedures | Disorders | Chromosome 6 | Chromosome deletion | Gene deletion | Dosage | Patients | Haploinsufficiency | Chromosome 22 | Diagnostic systems | Aberration | Chromosomes | Tbx1 protein | Human Genetics • Original Paper
Journal Article
American journal of human genetics, ISSN 0002-9297, 09/2015, Volume 97, Issue 3, pp. 457 - 464
Journal Article
Journal Article
Nature (London), ISSN 1476-4687, 12/2017, Volume 553, Issue 7687, pp. 217 - 221
Journal Article
Journal of inherited metabolic disease, ISSN 1573-2665, 11/2010, Volume 34, Issue 1, pp. 159 - 164
Journal Article
Nature genetics, ISSN 1546-1718, 03/2015, Volume 47, Issue 5, pp. 435 - 444
Journal Article