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The American Journal of Human Genetics, ISSN 0002-9297, 01/2011, Volume 88, Issue 1, pp. 30 - 41
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2016, Volume 11, Issue 1, pp. e0146241 - e0146241
Journal Article
Japanese Journal of Human Genetics, ISSN 1434-5161, 09/1997, Volume 42, Issue 3, pp. 461 - 465
Journal Article
Japanese Journal of Human Genetics, ISSN 0916-8478, 1996, Volume 41, Issue 3, pp. 323 - 328
We report on a female infant with an interstitial deletion involving 2q24.3. She had multiple congenital anomalies similar to those in patients with... 
chromosomal aberration | encephalocele | 2q medial monosomy | MENTAL-RETARDATION | NEWBORN | ANOMALIES | GENETICS & HEREDITY | PHENOTYPE | DEL(Q31Q33) | KARYOTYPE | GIRL | Chromosome Deletion | Chromosomes, Human, Pair 2 | Humans | Karyotyping | Adult | Female | Infant | Male | Monosomy - genetics | Index Medicus
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 08/1992, Volume 1, Issue 5, pp. 315 - 317
We described cloning and characterization of an inversion breakpoint of chromosome 2 inv(2)(q35q37.3) observed in a patient with Waardenburg syndrome type I... 
Cosmids | Exons | Humans | Molecular Sequence Data | Restriction Mapping | Chromosomes, Human, Pair 2 | DNA - genetics | DNA Mutational Analysis | Waardenburg Syndrome - genetics | Base Sequence | Chromosome Aberrations | Cloning, Molecular | Polymerase Chain Reaction | Waardenburg syndrome I | breakpoints | man | inversion | chromosome 2 | cloning | Index Medicus
Journal Article
The Journal of Biochemistry, ISSN 0021-924X, 06/1993, Volume 113, Issue 6, pp. 692 - 698
Journal Article
The Journal of Biochemistry, ISSN 0021-924X, 07/1992, Volume 112, Issue 1, pp. 75 - 80
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 03/2002, Volume 108, Issue 2, pp. 160 - 163
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 03/2001, Volume 99, Issue 2, pp. 111 - 114
Journal Article
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