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Journal Article
Genetic Counseling, ISSN 1015-8146, 2015, Volume 26, Issue 2, pp. 171 - 179
Molar tooth sign and acrocallosal syndrome - a report on a Polish family and review of KIP7 syndrornology: Acrocallosal syndrome is a multiple congenital... 
Hyperventilation | KIF7 gene | Molar tooth sign acrocallosal syndrome | DELINEATION | GENETICS & HEREDITY | MUTATIONS | SPECTRUM | JOUBERT SYNDROME | Molar tooth sign Acrocallosal syndrome | Tooth Abnormalities - genetics | Acrocallosal Syndrome - genetics | Humans | Child, Preschool | Kinesin - genetics | Poland | Female | Infant | Male | Siblings
Journal Article
Biomedical Papers, ISSN 1213-8118, 07/2015, Volume 159, Issue 2, pp. 333 - 337
Background. Chromosomal duplications involving 17p13.3 have recently been defined as a new distinctive syndrome with several diagnosed patients. Some variation... 
Albinism | 17p13.3 | Chromosomal duplication | MEDICINE, RESEARCH & EXPERIMENTAL | GENE | chromosomal duplication | albinism | Chromosomes, Human, Pair 19 - genetics | Albinism, Oculocutaneous - genetics | Humans | Child, Preschool | Female | In Situ Hybridization, Fluorescence | Chromosome Duplication - genetics
Journal Article
Journal Article
Journal Article
Pediatria Polska, ISSN 0031-3939, 2007, Volume 82, Issue 11, pp. 846 - 853
Zespół Wolfa i Hirschhorna jest chorobą uwarunkowaną częściową delecją krótkiego ramienia chromosomu 4. Ze względu na charakterystyczny fenotyp twarzy jej... 
mikrodelecje | phenotype | zespół Wolfa i Hirschhorna | microdeletion | FISH | diagnosis | diagnostyka | fenotyp | Wolf-Hirschhorn syndrome | Microdeletion | Phenotype | Diagnosis
Journal Article
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