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Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?
Trifonov Vladimir, Fluri Simon, Binkert Franz, Nandini Adayapalam, Anderson Jasen, Rodriguez Laura, Gross Madeleine, Kosyakova Nadezda, Mkrtchyan Hasmik, Ewers Elisabeth, Reich Daniela, Weise Anja, Liehr Thomas
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Savoirs
Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?
Trifonov Vladimir, Fluri Simon, Binkert Franz, Nandini Adayapalam, Anderson Jasen, Rodriguez Laura, Gross Madeleine, Kosyakova Nadezda, Mkrtchyan Hasmik, Ewers Elisabeth, Reich Daniela, Weise Anja, Liehr Thomas
7 pages
English
Documents
Chromosome distribution in human sperm – a 3D multicolor banding-study
Manvelyan Marina, Hunstig Friederike, Bhatt Samarth, Mrasek Kristin, Pellestor Franck, Weise Anja, Simonyan Isabella, Aroutiounian Rouben, Liehr, Liehr Thomas
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Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 → qter) detected in an autistic boy
Carreira, Rodrigues Carlos, Backx Liesbeth, Vermeesch Joris, Weise Anja, Kosyakova Nadezda, Oliveira Guiomar, Matoso, Matoso Eunice, Melo
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Savoirs
Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 → qter) detected in an autistic boy
Carreira, Rodrigues Carlos, Backx Liesbeth, Vermeesch Joris, Weise Anja, Kosyakova Nadezda, Oliveira Guiomar, Matoso, Matoso Eunice, Melo
7 pages
English
Documents
Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding
Karadeniz Nilüfer, Mrasek Kristin, Weise, Weise Anja
Documents
The hierarchically organized splitting of chromosomal bands for all human chromosomes
Kosyakova Nadezda, Weise Anja, Mrasek Kristin, Claussen Uwe, Liehr Thomas, Nelle, Nelle Heike
Documents
Position of chromosomes 18, 19, 21 and 22 in 3D-preserved interphase nuclei of human and gorilla and white hand gibbon
Manvelyan Marina, Hunstig Friederike, Mrasek Kristin, Bhatt Samarth, Pellestor Franck, Weise Anja, Liehr, Liehr Thomas
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Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?
Polityko Anna, Khurs Olga, Rumyantseva Natalia, Naumchik Irina, Kosyakova Nadezda, Tönnies Holger, Sperling Karl, Neitzel Heidemarie, Weise Anja, Liehr, Liehr Thomas
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Savoirs
Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?
Polityko Anna, Khurs Olga, Rumyantseva Natalia, Naumchik Irina, Kosyakova Nadezda, Tönnies Holger, Sperling Karl, Neitzel Heidemarie, Weise Anja, Liehr, Liehr Thomas
6 pages
English
Documents
Derivative chromosome 1 and GLUT1deficiency syndrome in a sibling pair
Aktas Dilek, Utine, Mrasek Kristin, Weise Anja, Yalaz Kalbiye, Posorski Nicole, Akarsu Nurten, Alikasifoglu Mehmet, Liehr Thomas, Tuncbilek Ergul, Von
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Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature
Vorsanova, Iourov, Voinova-Ulas, Weise Anja, Monakhov, Kolotii, Soloviev, Novikov, Yurov, Liehr, Liehr Thomas
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Savoirs
Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature
Vorsanova, Iourov, Voinova-Ulas, Weise Anja, Monakhov, Kolotii, Soloviev, Novikov, Yurov, Liehr, Liehr Thomas
7 pages
English