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Methods in Molecular Biology, ISSN 1064-3745, 2017, Volume 1619, pp. 477 - 486
Journal Article
Cancer Research, ISSN 0008-5472, 10/2018, Volume 78, Issue 20, pp. 6001 - 6010
Breast cancer classification has been the focus of numerous worldwide efforts, analyzing the molecular basis of breast cancer subtypes and aiming to associate... 
HETEROGENEITY | COMPUTATIONAL PLATFORM | MOLECULAR PORTRAITS | ONCOLOGY | SUBTYPES | TAMOXIFEN | CLASS DISCOVERY | IDENTIFICATION | TUMORS | ESTROGEN-RECEPTOR | MASS-SPECTROMETRY
Journal Article
Cell Reports, ISSN 2211-1247, 08/2015, Volume 12, Issue 7, pp. 1169 - 1183
Journal Article
Neuron, ISSN 0896-6273, 11/2015, Volume 88, Issue 3, pp. 499 - 513
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2019, Volume 179, Issue 12, pp. 2454 - 2458
Cases with multiple molecular diagnoses are challenging to diagnose clinically, yet may be resolved by unbiased exome sequencing analysis. We report an infant... 
exome sequencing | congenital pyloric stenosis | coloboma | MAPRE2 | CDON | Phenotypes | Hedgehog protein | Congenital defects | Pituitary | Stenosis | Retina | Skin | Heredity | Holoprosencephaly
Journal Article
Genetics in Medicine, ISSN 1098-3600, 12/2018, Volume 20, Issue 12, pp. 1528 - 1537
Purpose: Multilocus variation-pathogenic variants in two or more disease genes-can potentially explain the underlying genetic basis for apparent phenotypic... 
phenotypic expansion of Mendelizing disease traits | neurodevelopmental disorder | multilocus variation | distinct/overlapping blended phenotypes | personal genomes | DIAGNOSIS | DE-NOVO | PROTEIN | FAMILY | INDIVIDUALS | SPASTIC PARAPLEGIA | HYPOTONIA | GENETICS & HEREDITY | GPR126 | MUTATIONS | INHERITANCE | distinct | overlapping blended phenotypes
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 08/2019, Volume 27, Issue 8, pp. 1315 - 1319
The transforming growth factor-beta (TGF beta) signaling pathway is essential for palatogenesis and retinal development. Glycoprotein A repetitions predominant... 
PROGRAMMED CELL-DEATH | GARP | DEFECTS | RETINA | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | Signal transduction | Retinopathy | Transforming growth factor-b | Retina | Cell surface | Immunity (cell-mediated) | Cleft lip/palate
Journal Article
Genome Medicine, ISSN 1756-994X, 03/2017, Volume 9, Issue 1, p. 26
Journal Article