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Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?

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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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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

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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

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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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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

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New cytogenetically visible copy number variant in region 8q21.2

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New cytogenetically visible copy number variant in region 8q21.2

Manvelyan Marina, Cremer, Lancé Jeannette, Kläs Rüdiger, Kelbova Christina, Ramel Christian, Reichenbach Herbert, Schmidt Catharina, Ewers Elisabeth, Kreskowski Katharina, Kosyakova Nadezda, Liehr Thomas, Ziegler Monika

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New cytogenetically visible copy number variant in region 8q21.2

Manvelyan Marina, Cremer, Lancé Jeannette, Kläs Rüdiger, Kelbova Christina, Ramel Christian, Reichenbach Herbert, Schmidt Catharina, Ewers Elisabeth, Kreskowski Katharina, Kosyakova Nadezda, Liehr Thomas, Ziegler Monika

3 pages

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Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them

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Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them

Liehr Thomas, Mrasek Kristin, Kosyakova Nadezda, Ogilvie Caroline, Vermeesch Joris, Trifonov Vladimir, Rubtsov, Rubtsov Nikolai

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Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them

Liehr Thomas, Mrasek Kristin, Kosyakova Nadezda, Ogilvie Caroline, Vermeesch Joris, Trifonov Vladimir, Rubtsov, Rubtsov Nikolai

7 pages

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The hierarchically organized splitting of chromosomal bands for all human chromosomes

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The hierarchically organized splitting of chromosomal bands for all human chromosomes

Kosyakova Nadezda, Weise Anja, Mrasek Kristin, Claussen Uwe, Liehr Thomas, Nelle, Nelle Heike

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The hierarchically organized splitting of chromosomal bands for all human chromosomes

Kosyakova Nadezda, Weise Anja, Mrasek Kristin, Claussen Uwe, Liehr Thomas, Nelle, Nelle Heike

8 pages

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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?

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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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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

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