audio

Auteur

Liehr Thomas

Œuvres

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

Documents

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

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

Documents

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

Lire

Chromosome distribution in human sperm – a 3D multicolor banding-study

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

Chromosome distribution in human sperm – a 3D multicolor banding-study

Documents

Savoirs

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

8 pages

English

Lire

The use of array-CGH in a cohort of Greek children with developmental delay

Documents

The use of array-CGH in a cohort of Greek children with developmental delay

Manolakos Emmanouil, Vetro Annalisa, Kefalas Konstantinos, Rapti Stamatia-Maria, Louizou Eirini, Garas Antonios, Kitsos George, Vasileiadis Lefteris, Tsoplou Panagiota, Eleftheriades Makarios, Peitsidis Panagiotis, Orru Sandro, Liehr Thomas, Thomaidis Loretta, Petersen

The use of array-CGH in a cohort of Greek children with developmental delay

Documents

Savoirs

The use of array-CGH in a cohort of Greek children with developmental delay

Manolakos Emmanouil, Vetro Annalisa, Kefalas Konstantinos, Rapti Stamatia-Maria, Louizou Eirini, Garas Antonios, Kitsos George, Vasileiadis Lefteris, Tsoplou Panagiota, Eleftheriades Makarios, Peitsidis Panagiotis, Orru Sandro, Liehr Thomas, Thomaidis Loretta, Petersen

8 pages

English

Lire

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

Documents

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

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

Documents

Savoirs

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

English

Lire

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

Documents

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

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

Documents

Savoirs

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

English

Lire

The hierarchically organized splitting of chromosomal bands for all human chromosomes

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

The hierarchically organized splitting of chromosomal bands for all human chromosomes

Documents

Savoirs

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

English

Lire

Centromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics

Documents

Centromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics

Klein Elisabeth, Manvelyan Marina, Simonyan Isabella, Guilherme Roberta, Liehr Thomas, Karamysheva, Karamysheva Tatyana, Hamid

Centromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics

Documents

Savoirs

Centromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics

Klein Elisabeth, Manvelyan Marina, Simonyan Isabella, Guilherme Roberta, Liehr Thomas, Karamysheva, Karamysheva Tatyana, Hamid

7 pages

English

Lire

Position of chromosomes 18, 19, 21 and 22 in 3D-preserved interphase nuclei of human and gorilla and white hand gibbon

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

Position of chromosomes 18, 19, 21 and 22 in 3D-preserved interphase nuclei of human and gorilla and white hand gibbon

Documents

Savoirs

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

7 pages

English

Lire

X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation

Documents

X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation

Matoso Eunice, Pinto Marta, Almeida Joana, Liehr Thomas, Carreira, Ferreira, Melo

X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation

Documents

Savoirs

X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation

Matoso Eunice, Pinto Marta, Almeida Joana, Liehr Thomas, Carreira, Ferreira, Melo

7 pages

English

Lire

Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation

Documents

Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation

Auber Bernd, Bruemmer Verena, Zoll Barbara, Burfeind Peter, Boehm Detlef, Liehr Thomas, Brockmann Knut, Wilichowski Ekkehard, Argyriou Loukas, Bartels, Bartels Iris

Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation

Documents

Savoirs

Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation

Auber Bernd, Bruemmer Verena, Zoll Barbara, Burfeind Peter, Boehm Detlef, Liehr Thomas, Brockmann Knut, Wilichowski Ekkehard, Argyriou Loukas, Bartels, Bartels Iris

11 pages

English

Lire

Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?

Documents

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

Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?

Documents

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

Lire

Automated detection of residual cells after sex-mismatched stem-cell transplantation – evidence for presence of disease-marker negative residual cells

Documents

Automated detection of residual cells after sex-mismatched stem-cell transplantation – evidence for presence of disease-marker negative residual cells

Starke Heike, Hoffmann Martin, Erlecke Jörn, Hartmann Isabell, Kroll Torsten, Heller Anita, Gloria Alexander, Sayer, Johannes Tilman, Claussen Uwe, Liehr Thomas, Loncarevic

Automated detection of residual cells after sex-mismatched stem-cell transplantation – evidence for presence of disease-marker negative residual cells

Documents

Savoirs

Automated detection of residual cells after sex-mismatched stem-cell transplantation – evidence for presence of disease-marker negative residual cells

Starke Heike, Hoffmann Martin, Erlecke Jörn, Hartmann Isabell, Kroll Torsten, Heller Anita, Gloria Alexander, Sayer, Johannes Tilman, Claussen Uwe, Liehr Thomas, Loncarevic

12 pages

English

Lire

8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

Documents

8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

Bunyan Dave, Curtis Merryl, Robinson Denise, Morlot Susanne, Dermitzel Anette, Liehr Thomas, Alves Claudia, Trindade Joana, Paramos, Cooper Clare, Ocraft Kevin, Taylor Emma-Jane, Maloney, Barber

8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

Documents

Savoirs

8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

Bunyan Dave, Curtis Merryl, Robinson Denise, Morlot Susanne, Dermitzel Anette, Liehr Thomas, Alves Claudia, Trindade Joana, Paramos, Cooper Clare, Ocraft Kevin, Taylor Emma-Jane, Maloney, Barber

10 pages

English

Lire

Derivative chromosome 1 and GLUT1deficiency syndrome in a sibling pair

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

Derivative chromosome 1 and GLUT1deficiency syndrome in a sibling pair

Documents

Savoirs

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

7 pages

English

Lire

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

Documents

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

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

Documents

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

Lire

Univers
Ebooks
Livres audio
Presse
Podcasts
BD
Documents

© 2010-2024 YouScribe

Livre audio en ligne - Développement personnel Livre en ligne Tout le catalogue Tous les Intérêts