Výsledky vyhledávání - Martin G. Bialer

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  1. 1
    Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease

    Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease Autor Donna L. Bernstein, Helena Hůlková, Martin G. Bialer, Robert J. Desnick

    Vydáno 2013
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    Revisão
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  2. 2
    Chronic atrial and intestinal dysrhythmia: A rare genetic disorder of intestinal pseudo‐obstruction

    Chronic atrial and intestinal dysrhythmia: A rare genetic disorder of intestinal pseudo‐obstruction Autor Kanya Ahuja, Shivany Pathania, Nicole Baron, Julie Khlevner, Martin G. Bialer, Jennifer Mait‐Kaufman

    Vydáno 2025
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  3. 3
    AT-Rich Palindromes Mediate the Constitutional t(11;22) Translocation

    AT-Rich Palindromes Mediate the Constitutional t(11;22) Translocation Autor Lisa Edelmann, Elizabeth Spiteri, Kobe Koren, Venkat Pulijaal, Martin G. Bialer, Alan Shanske, Rosalie Goldberg, Bernice E. Morrow

    Vydáno 2001
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  4. 4
    Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene

    Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene Autor Charles E. Schwartz, Melanie May, Nancy J. Carpenter, R. Curtis Rogers, Judith A. Martin, Martin G. Bialer, Jewell C. Ward, Javier Sanabria, Silvana Marsa, James A. Lewis, Roberto J. Echeverri, Herbert A. Lubs, Kytja K. S. Voeller, Richard J. Simensen, Roger E. Stevenson

    Vydáno 2005
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  5. 5
    De novo missense variants in<i>HECW2</i>are associated with neurodevelopmental delay and hypotonia

    De novo missense variants in<i>HECW2</i>are associated with neurodevelopmental delay and hypotonia Autor Esther R. Berko, Megan T. Cho, Christine M. Eng, Yunru Shao, David A. Sweetser, Jessica L. Waxler, Nathaniel H. Robin, Fallon Brewer, Sandra Donkervoort, Payam Mohassel, Carsten G. Bönnemann, Martin G. Bialer, Christine Moore, Lynne A. Wolfe, Cynthia J. Tifft, Yufeng Shen, Kyle Retterer, Francisca Millan, Wendy K. Chung

    Vydáno 2016
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  6. 6
    Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

    Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants Autor Simon Jones, Vassili Valayannopoulos, Eugene Schneider, Stephen Eckert, Maryam Banikazemi, Martin G. Bialer, Stephen Cederbaum, Alicia Chan, Anil Dhawan, Maja Di Rocco, Jennifer Domm, Gregory M. Enns, David N. Finegold, J. Jay Gargus, Ornella Guardamagna, Christian J. Hendriksz, Iman G. Mahmoud, Julian Raiman, Laila Selim, Chester B. Whitley, Osama K. Zaki, Anthony G. Quinn

    Vydáno 2015
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  7. 7
    MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

    MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways Autor Alex R. Paciorkowski, Ryan N. Traylor, Jill A. Rosenfeld, Jacqueline M. Hoover, Catharine Harris, Susan Winter, Yves Lacassie, Martin G. Bialer, Allen N. Lamb, Roger A. Schultz, Elizabeth Berry‐Kravis, Brenda E. Porter, Marni J. Falk, Anu Venkat, Rena Vanzo, Julie S. Cohen, Ali Fatemi, William B. Dobyns, Lisa G. Shaffer, Blake C. Ballif, Eric D. Marsh

    Vydáno 2013
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  8. 8
    Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

    Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy Autor Pia Østergaard, Michael A. Simpson, Antonella Mendola, Pradeep Vasudevan, Fiona Connell, Andreas van Impel, Anthony T. Moore, Bart Loeys, Arash Ghalamkarpour, Alexandros Onoufriadis, Inés Martínez‐Corral, Sophie Devery, Jules G. Leroy, Lut Van Laer, Amihood Singer, Martin G. Bialer, Meriel McEntagart, Oliver Quarrell, Glen Brice, Richard C. Trembath, Stefan Schulte‐Merker, Taija Mäkinen, Miikka Vikkula, Peter Mortimer, Sahar Mansour, Steve Jeffery

    Vydáno 2012
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  9. 9
    Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

    Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis Autor Deborah Krakow, Stephen P. Robertson, Lily King, Timothy Morgan, Eiman Sebald, Corine Bertolotto, Sebastian Wachsmann‐Hogiu, Dora Acuña, Sandor S. Shapiro, Toshiro Takafuta, Salim Aftimos, Chong Ae Kim, Helen V. Firth, Carlos Eduardo Steiner, Valérie Cormier‐Daire, Andrea Superti‐Furga, Luisa Bonafé, John M. Graham, Arthur Grix, Carlos A. Bacino, Judith Allanson, Martin G. Bialer, Ralph S. Lachman, David L. Rimoin, Daniel H. Cohn

    Vydáno 2004
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  10. 10
    PDE3A mutations cause autosomal dominant hypertension with brachydactyly

    PDE3A mutations cause autosomal dominant hypertension with brachydactyly Autor Philipp G. Maass, Atakan Aydın, Friedrich C. Luft, Carolin Schächterle, Anja Weise, Sigmar Stricker, Carsten Lindschau, Martin Vaegler, Fatimunnisa Qadri, Hakan R. Toka, Herbert Schulz, Peter Krawitz, Dmitri Parkhomchuk, Jochen Hecht, Irene Hollfinger, Yvette Wefeld‐Neuenfeld, Eireen Bartels‐Klein, Astrid Mühl, Martin Kann, Herbert Schuster, David Chitayat, Martin G. Bialer, Thomas F. Wienker, Jürg Ott, Katharina Rittscher, Thomas Liehr, Jens Jordan, Ghislaine Plessis, Jens Tank, Knut Mai, Ramin Naraghi, Russell Hodge, M Hopp, Lars‐Olof Hattenbach, Andreas Busjahn, Anita Rauch, Fabrice Vandeput, Maolian Gong, Franz Rüschendorf, Norbert Hübner, Hermann Haller, Stefan Mundlos, N Bilginturan, Matthew A. Movsesian, Enno Klußmann, Okan Toka, Sylvia Bähring

    Vydáno 2015
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  11. 11
    Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

    Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures Autor Slavé Petrovski, Sébastien Küry, Candace T. Myers, Kwame Anyane‐Yeboa, Benjamin Cogné, Martin G. Bialer, Fan Xia, Parisa Hemati, James J. Riviello, Michele G. Mehaffey, Thomas Besnard, Emily Becraft, Alexandrea Wadley, Anya Revah Politi, Sophie Colombo, Xiaolin Zhu, Zhong Ren, Ian Andrews, Tracy Dudding‐Byth, Amy L. Schneider, Geoffrey Wallace, Aaron B.I. Rosen, Susan Schelley, Gregory M. Enns, Pierre Corre, Joline Dalton, Sandra Mercier, Xénia Latypova, Sébastien Schmitt, Edwin R. Guzman, Christine Moore, Louise Bier, Erin L. Heinzen, Peter Karachunski, Natasha Shur, Theresa A. Grebe, Alice Basinger, Joanne Nguyen, Stéphane Bézieau, Klaas J. Wierenga, Jonathan A. Bernstein, Ingrid E. Scheffer, Jill A. Rosenfeld, Heather C. Mefford, Bertrand Isidor, David B. Goldstein

    Vydáno 2016
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  12. 12
    High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

    High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correla... Autor Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, J. Nicholas Cochran, Mary‐Alice Abbott, Joan Atkin, Dusica Babovic‐Vuksanovic, Christopher Barnett, Melissa Crenshaw, Dennis W. Bartholomew, Lina Basel, Gary A. Bellus, Shay Ben‐Shachar, Martin G. Bialer, David Bick, Bruce Blumberg, Fanny Cortés, Karen L. David, Anne Destrèe, Anna Duat Rodríguez, Dawn Earl, Luis Escobar, Marthanda Eswara, Begoña Ezquieta, Ian M. Frayling, Moshe Frydman, Kathy Gardner, Karen W. Gripp, Concepción Hernández‐Chico, Kurt Heyrman, Jennifer Ibrahim, Sandra Janssens, Beth Keena, Isabel Llano‐Rivas, Kathy Leppig, Marie McDonald, Vinod K. Misra, Jennifer Mulbury, Vinodh Narayanan, Naama Orenstein, Patricia Galvin‐Parton, Hélio Pedro, Enikö K. Pivnick, Cynthia M. Powell, Linda M. Randolph, Salmo Raskin, Jordi Rosell, Karol Rubin, Margretta R. Seashore, Christian P. Schaaf, Angela E. Scheuerle, Meredith Schultz, Elizabeth K. Schorry, Rhonda E. Schnur, Elizabeth Siqveland, Amanda Tkachuk, James H. Tonsgard, Meena Upadhyaya, Ishwar C. Verma, Stephanie E Wallace, Charles A. Williams, Elaine H. Zackai, Jonathan Zonana, Conxi Lázaro, Kathleen Claes, Bruce R. Korf, Yolanda Martín, Eric Legius, Ludwine Messiaen

    Vydáno 2015
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  13. 13
    CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

    CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language Autor Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, C. Nowak, Jessica Douglas, Kathryn J. Swoboda, Marcie Steeves, Inderneel Sahai, Connie T. R. M. Stumpel, Alexander P.A. Stegmann, Patricia G. Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T. Gibson, Ana S.A. Cohen, Ruky Agbahovbe, A. Micheil Innes, Ping Yee Billie Au, Julia Rankin, Ilse J. Anderson, Steven A. Skinner, Raymond J. Louie, Hannah Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong‐Hee Chae, Susan Price, Rhonda E. Schnur, Ganka Douglas, Ingrid M. Wentzensen, Christiane Zweier, André Reis, Martin G. Bialer, Christine Moore, Marion Koopmans, Eva H. Brilstra, Glen R. Monroe, Koen L.I. van Gassen, Ellen van Binsbergen, Ruth Newbury‐Ecob, Lucy Bownass, Ingrid Bader, Johannes A. Mayr, Saskia B. Wortmann, Kathy J. Jakielski, Edythe A. Strand, Katja Kloth, Tatjana Bierhals, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, E Blair, Moira Blyth

    Vydáno 2018
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