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Journal Article
Journal of Applied Genetics, ISSN 1234-1983, 2/2017, Volume 58, Issue 1, pp. 93 - 98
Chromosome 22q11.2 deletion syndrome, one of the most common human genomic syndromes, has highly heterogeneous clinical presentation. Patients usually harbor a... 
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 | DIGEORGE-SYNDROME | MICROARRAY | ANOMALIES | HYBRIDIZATION | REGION | 10P | CHROMOSOME | MICRODELETIONS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | VELOCARDIOFACIAL-SYNDROME | GENETICS & HEREDITY | CONGENITAL HEART-DEFECTS | 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 | Clonal deletion | Deletion | Chromosome 22 | Diagnostic systems | Aberration | Chromosomes | Tbx1 protein | Human Genetics • Original Paper
Journal Article
Journal of Applied Genetics, ISSN 1234-1983, 5/2015, Volume 56, Issue 2, pp. 193 - 198
Journal Article
Oncotarget, ISSN 1949-2553, 2017, Volume 8, Issue 60, pp. 101325 - 101332
Approximately 25% of patients with ovarian cancer harbor a pathogenic BRCA1/2 mutation that has been associated with favorable responses for targeted therapy... 
BRCA1/2 | CtDNA | Next-generation sequencing | PARP1 inhibitor | Ovarian cancer | ovarian cancer | next-generation sequencing | POLYMERASE | POLAND | ctDNA | SOMATIC MUTATIONS | CELL BIOLOGY | BREAST-CANCER | PLASMA | GENE | FREQUENCY | GERMLINE MUTATIONS | INHIBITORS
Journal Article
Journal Article
Cancer Medicine, ISSN 2045-7634, 07/2016, Volume 5, Issue 7, pp. 1640 - 1646
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 867 - 876
Neurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or... 
genotype–phenotype correlation | NF1 | p.Met992del | learning difficulties | neurofibroma | GENETICS & HEREDITY | Genotype & phenotype | Brain cancer | Index Medicus
Journal Article
Cancer Medicine, 07/2016, Volume 5, Issue 7, pp. 1640 - 1646
The overall prevalence of germline BRCA1/2 mutations is estimated between 11% and 15% of all ovarian cancers. Individuals with germline BRCA1/2 alterations... 
BRCA2 protein | BRCA1 protein | Ovarian carcinoma | DNA damage | Genes | Breast cancer | Paraffin | Patients | Ovarian cancer | Poly(ADP-ribose) Polymerase 1 | Genetic counseling | Mutation | Deoxyribonucleic acid--DNA | Tumors
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 764 - 765
A correction has been published to this Article. The PDF and HTML have been updated accordingly. 
Journal Article
Archives of Medical Science, ISSN 1734-1922, 08/2016, Volume 12, Issue 4, pp. 778 - 784
Introduction: Markers of exhaled breath condensate (EBC) correlate with lung function impairment, airway remodeling and different aspects of the disease such... 
Exercise-induced bronchoconstriction | Children | Cytokines | Exhaled breath condensate | Asthma | DIAGNOSIS | MEDICINE, GENERAL & INTERNAL | children | INFLAMMATION | CHEMOKINES | exhaled breath condensate | NITRIC-OXIDE | asthma | cytokines | INDUCED BRONCHOCONSTRICTION | exercise-induced bronchoconstriction | CLINICAL-PRACTICE | Clinical Research
Journal Article
Wspolczesna Onkologia, ISSN 1428-2526, 2017, Volume 21, Issue 4, pp. 279 - 284
Examination of copy number changes in a group of intracranial germ cell tumors (GCTs) with particular focus on putative aberrations of the main genes coding... 
Array-CGH | Sonic Hedgehog signaling | Germinoma | Intracranial germ cell tumors | Chromosomes | Tumors | Original Paper | intracranial germ cell tumors | germinoma | array-CGH | Sonic Hed­ge­hog signaling
Journal Article