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British Journal of Dermatology, ISSN 0007-0963, 08/2018, Volume 179, Issue 2, pp. 509 - 511
Journal Article
Hereditary Cancer in Clinical Practice, ISSN 1731-2302, 02/2016, Volume 14, Issue 1, p. 6
Since the identification of BRCA1 there has only ever been described two bi-allelic mutation carriers, one of whom was subsequently shown to be a mono-allelic... 
Bi-allelic | BRCA1 mutations | Isoforms | Splice site | ONCOLOGY | FAMILIES | GENES | KNOCKOUT | OVARIAN-CANCER | FANCONI-ANEMIA | BREAST | CLINICAL-SIGNIFICANCE | Disease susceptibility | Genetic aspects | Gene expression | BRCA mutations | Health aspects
Journal Article
Mycoses, ISSN 0933-7407, 01/2018, Volume 61, Issue 1, pp. 61 - 65
Summary CARD9 deficiency (CANDF2; OMIM# 212050) is an autosomal‐recessive monogenic inborn error of immunity conferring susceptibility to invasive fungal... 
splicing | candidiasis | CARD9 | bi‐allelic | bi-allelic | DERMATOPHYTOSIS | INNATE | MENINGOENCEPHALITIS | MYCOLOGY | DEFICIENCY | FAMILY | DERMATOLOGY | Chemotherapy | Analysis | Genetic research | Mycoses | Endophthalmitis | Disease susceptibility | Genetic aspects | Cancer | Candidiasis | Splicing | Central nervous system | Parenchyma | Nervous system | Protein deficiency | Gene deletion | Trauma | Meninges | Mutation | Brain injury
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2018, Volume 103, Issue 1, pp. 100 - 114
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2019, Volume 104, Issue 3, pp. 520 - 529
Journal Article
Journal Article
Clinical Case Reports, ISSN 2050-0904, 08/2018, Volume 6, Issue 8, pp. 1448 - 1451
Key Clinical Message Few studies reported patients who harbored three kinds of primary tumors simultaneously. Here, we present a 9‐year‐old boy with colon... 
MSH6 | CMMR‐D syndrome | Bi‐allelic mutations | CMMR-D syndrome | Bi-allelic mutations
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2018, Volume 103, Issue 2, pp. 200 - 212
Journal Article
British Journal of Haematology, ISSN 0007-1048, 08/2008, Volume 142, Issue 3, pp. 423 - 426
Summary FLT3 internal tandem duplication mutant levels >50%, indicative of bi-allelic disease in some cells, are associated with a particularly poor prognosis... 
FLT3 internal tandem duplication | bi-allelic disease | uniparental disomy
Journal Article
Molecular Therapy - Methods & Clinical Development, ISSN 2329-0501, 12/2019, Volume 15, pp. 285 - 293
We describe a strategy to achieve footprintless bi-allelic homology-directed repair (HDR) using helper-dependent adenoviruses (HDAds). This approach utilizes... 
helper-dependent | bi-allelic | homologous recombination | cystic fibrosis | adenovirus | gene targeting | homolog-directed repair | gene editing | CFTR | MEDICINE, RESEARCH & EXPERIMENTAL<