Хайлтын үр дүнгүүд - Michael B. Petersen

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  1. 1
    Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update

    Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update -н Morten Krogh Herlin, Michael B. Petersen, Mats Brännström

    Хэвлэсэн 2020
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    Revisão
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  2. 2
    Prevalence and patient characteristics of Mayer–Rokitansky–Küster–Hauser syndrome: a nationwide registry-based study

    Prevalence and patient characteristics of Mayer–Rokitansky–Küster–Hauser syndrome: a nationwide registry-based study -н Morten Krogh Herlin, Anne‐Mette Bay Bjørn, Maria Rasmussen, Birgitta Trolle, Michael B. Petersen

    Хэвлэсэн 2016
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    Artigo
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  3. 3
    A genetic linkage map of 27 markers on human chromosome 21

    A genetic linkage map of 27 markers on human chromosome 21 -н Michael B. Petersen, Susan A. Slaugenhaupt, John G. Lewis, Andrew C. Warren, Aravinda Chakravarti, Stylianos E. Antonarakis

    Хэвлэсэн 1991
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    Artigo
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  4. 4
    Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome. A case report

    Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer–Rokitansky–Küster–Hauser (MRKH) s... -н Morten Krogh Herlin, Vang Quy Le, Allan Thomas Højland, Anja Ernst, Henrik Okkels, Astrid Petersen, Michael B. Petersen, Inge Søkilde Pedersen

    Хэвлэсэн 2019
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    Artigo
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  5. 5
    Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

    Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome -н Fransiska Malfait, Sofie Symoens, Nathalie Goemans, Yolanda Gyftodimou, Eva Holmberg, Vanesa López‐González, Geert Mortier, Sheela Nampoothiri, Michael B. Petersen, Anne De Paepe

    Хэвлэсэн 2013
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    Artigo
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  6. 6
    Human Ring Chromosomes – New Insights for their Clinical Significance

    Human Ring Chromosomes – New Insights for their Clinical Significance -н Roberta Santos Guilherme, Elisabeth Klein, Ahmed B. Hamid, Samarth Bhatt, Marianne Volleth, A. Polityko, Anna Kulpanovich, Andreas Dufke, Beate Albrecht, Susanne Morlot, Lukrecija Brečević, Michael B. Petersen, Emmanouil Manolakos, Nadezda Kosyakova, Thomas Liehr

    Хэвлэсэн 2013
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    Artigo
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  7. 7
    A New Multicolor Fluorescence In Situ Hybridization Probe Set Directed Against Human Heterochromatin

    A New Multicolor Fluorescence In Situ Hybridization Probe Set Directed Against Human Heterochromatin -н Maria Bucksch, Monika Ziegler, Nadezda Kosayakova, Milene Mulatinho, Juan Clinton Llerena, Susanne Morlot, Wolfgang Fischer, A. Polityko, Anna Kulpanovich, Michael B. Petersen, Britta Belitz, Vladimir A. Trifonov, Anja Weise, Thomas Liehr, Ahmed B. Hamid

    Хэвлэсэн 2012
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    Artigo
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  8. 8
    Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21

    Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21 -н Neil E. Lamb, Eleanor Feingold, Amanda C. Savage, Dimitris Avramopoulos, Sallie B. Freeman, Yuan-chao Gu, Anni Hallberg, Jane Hersey, Georgia Karadima, Dorothy Pettay, Denise M. Saker, Joseph Shen, Lisa F. Taft, Margareta Mikkelsen, Michael B. Petersen, Terry Hassold, Stephanie L. Sherman

    Хэвлэсэн 1997
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    Artigo
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  9. 9
    Targeted gene sequencing and whole‐exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies

    Targeted gene sequencing and whole‐exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies -н Maria Rasmussen, Lone Sunde, Marlene Louise Nielsen, Mette Ramsing, Astrid Petersen, Tina Duelund Hjortshøj, Tina Elisabeth Olsen, Ann Tabor, Jens Michael Hertz, Iben Birgit Gade Johnsen, L. Sperling, Olav Bjørn Petersen, Uffe Birk Jensen, Frederik Møller, Michael B. Petersen, Dorte L. Lildballe

    Хэвлэсэн 2017
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    Artigo
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  10. 10
    An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss

    An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss -н Michel Guipponi, Min-Yen Toh, Justin Tan, Daeho Park, Kelly Hanson, Ester Ballana, David Kwong, Ping Cannon, Qingyu Wu, Alex Gout, Mauro Delorenzi, Terence P. Speed, Richard J. Smith, Henrik Dahl, Michael B. Petersen, Rohan D. Teasdale, Xavier Estivill, Woo Jin Park, Hamish S. Scott

    Хэвлэсэн 2007
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    Artigo
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  11. 11
    A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss

    A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss -н Aslı Sırmacı, Seyra Erbek, Justin Price, Mingqian Huang, Duygu Duman, Filiz Başak Cengiz, Güney Bademci, Suna Tokgöz-Yılmaz, Burcu Öztürk Hişmi, Hi̇lal Özdağ, Banu Öztürk, Sevsen Kulaksızoğlu, Erkan Yıldırım, Haris Kokotas, Maria Grigoriadou, Michael B. Petersen, Hashem Shahin, Moien Kanaan, Mary‐Claire King, Zheng‐Yi Chen, Susan H. Blanton, Xue Z. Liu, Stephan Züchner, Nejat Akar, Mustafa Tekin

    Хэвлэсэн 2010
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    Artigo
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  12. 12
    SLITRK6 mutations cause myopia and deafness in humans and mice

    SLITRK6 mutations cause myopia and deafness in humans and mice -н Mustafa Tekin, Barry A. Chioza, Yoshifumi Matsumoto, Oscar Diaz‐Horta, Harold E. Cross, Duygu Duman, Haris Kokotas, Heather Moore-Barton, Kazuto Sakoori, Maya Ota, Yuri S. Odaka, Joseph Foster, Filiz Başak Cengiz, Suna Tokgöz-Yılmaz, Oya Tekeli, Maria Grigoriadou, Michael B. Petersen, Ajith Sreekantan-Nair, Kay Gurtz, Xia-Juan Xia, Arti Pandya, Michael A. Patton, Juan I. Young, Jun Aruga, Andrew H. Crosby

    Хэвлэсэн 2013
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    Artigo
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  13. 13
    HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

    HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle -н Matthew A. Deardorff, Masashige Bando, Ryuichiro Nakato, Erwan Watrin, Takehiko Itoh, Masashi Minamino, Katsuya Saitoh, Makiko Komata, Yuki Katou, Dinah Clark, Kathryn Cole, Elfride De Baere, Christophe Decroos, Nataliya Di Donato, Sarah Ernst, Lauren J. Francey, Yolanda Gyftodimou, Kyotaro Hirashima, Melanie Hullings, Yuuichi Ishikawa, Christian Jaulin, Maninder Kaur, Tohru Kiyono, Patrick M. Lombardi, Laura Magnaghi-Jaulin, Geert Mortier, Naohito Nozaki, Michael B. Petersen, Hiroyuki Seimiya, Victoria Mok Siu, Yutaka Suzuki, Kentaro Takagaki, Jonathan J. Wilde, Patrick J. Willems, Claude Prigent, Gabriele Gillessen‐Kaesbach, D.W. Christianson, Frank J. Kaiser, Laird G. Jackson, Toru Hirota, Ian D. Krantz, Katsuhiko Shirahige

    Хэвлэсэн 2012
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    Artigo
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  14. 14
    The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsy

    The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsy -н Katrine M. Johannesen, Elena Gardella, Alejandra C. Encinas, Anna‐Elina Lehesjoki, Tarja Linnankivi, Michael B. Petersen, Ida Charlotte Bay Lund, Susanne Blichfeldt, María J. Miranda, Deb K. Pal, Karine Lascelles, Peter Procopis, Alessandro Orsini, Alice Bonuccelli, Thea Giacomini, Ingo Helbig, Christina Fenger, Sanjay M. Sisodiya, Laura Hernandez‐Hernandez, Sundararaman Krithika, Melissa Rumple, Silvia Masnada, Marialuisa Valente, Cristina Cereda, Lucio Giordano, Patrizia Accorsi, Sarah Bürki, Maria Margherita Mancardi, Christian Korff, Renzo Guerrini, Sarah von Spiczak, Dorota Hoffman‐Zacharska, Tomasz Mazurczak, Antonietta Coppola, Salvatore Buono, Marilena Vecchi, Michael F. Hammer, Costanza Varesio, Pierangelo Veggiotti, Dennis Lal, Tobias Brünger, Federico Zara, Pasquale Striano, Guido Rubboli, Rikke S. Møller

    Хэвлэсэн 2019
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    Artigo
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  15. 15
    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance -н Frank J. Kaiser, Morad Ansari, Diana Braunholz, María Concepción Gil‐Rodríguez, Christophe Decroos, Jonathan J. Wilde, Christopher T. Fincher, Maninder Kaur, Masashige Bando, David J. Amor, Paldeep S. Atwal, Melanie Bahlo, Christine M. Bowman, Jacquelyn J. Bradley, Han G. Brunner, Dinah Clark, Miguel Del Campo, Nataliya Di Donato, Peter Diakumis, Holly Dubbs, David A. Dyment, Juliane Eckhold, Sarah Ernst, José Carlos Ferreira, Lauren J. Francey, Ulrike Gehlken, Encarna Guillén‐Navarro, Yolanda Gyftodimou, Bryan D. Hall, Raoul C. M. Hennekam, Louanne Hudgins, Melanie Hullings, Jennifer M. Hunter, Helger G. Yntema, A. Micheil Innes, Antonie D. Kline, Zita Krūmiņa, Hane Lee, Kathleen A. Leppig, Sally Ann Lynch, Mark Mallozzi, Linda Mannini, Shane McKee, Sarju Mehta, Ieva Mičule, Shehla Mohammed, Ellen Moran, Geert Mortier, J. Moser, Sarah E. Noon, Naohito Nozaki, Luís Nunes, John Pappas, Lynette S. Penney, Antonio Pérez Aytés, Michael B. Petersen, Beatriz Puisac, Nicole Revençu, Elizabeth Roeder, Sulagna C. Saitta, Angela E. Scheuerle, Karen L. Schindeler, Victoria Mok Siu, Zornitza Stark, Samuel P. Strom, Heidi Thiese, Inga Vater, Patrick J. Willems, Kathleen A. Williamson, Louise C. Wilson, Hákon Hákonarson, Fabiola Quintero‐Rivera, Jolanta Wierzba, Antonio Musio, Gabriele Gillessen‐Kaesbach, Feliciano J. Ramos, Laird G. Jackson, Katsuhiko Shirahige, Juan Pié, D.W. Christianson, Ian D. Krantz, David Fitzpatrick, Matthew A. Deardorff

    Хэвлэсэн 2014
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    Artigo
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