检索结果 - Mahim Jain

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  1. 1
    Bone Microvasculature: Stimulus for Tissue Function and Regeneration

    Bone Microvasculature: Stimulus for Tissue Function and Regeneration 由 Eun Jin Lee, Mahim Jain, Stella Alimperti

    出版 2020
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  2. 2
    Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders

    Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders 由 Lindsay C. Burrage, Mahim Jain, Laura Gandolfo, Brendan H. Lee, Sandesh C.S. Nagamani

    出版 2014
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  3. 3
    Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia

    Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia 由 Hines, Stephanie L., Richter, John E., Mohammad, Ahmed N., Mahim, Jain, Atwal, Paldeep S., Caulfield, Thomas R.

    出版 2019
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  4. 4
    A Cluster of Autism-Associated Variants on X-Linked NLGN4X Functionally Resemble NLGN4Y

    A Cluster of Autism-Associated Variants on X-Linked NLGN4X Functionally Resemble NLGN4Y 由 Thien A. Nguyen, Kunwei Wu, Saurabh Pandey, Alexander W. Lehr, Yan Li, Michael A. Bemben, John D. Badger, Julie Lauzon, Tongguang Wang, Kareem A. Zaghloul, Audrey Thurm, Mahim Jain, Wei Lü, Katherine W. Roche

    出版 2020
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  5. 5
    Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis

    Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis 由 Eva Klopocki, Silke B. Lohan, Francesco Brancati, Randi Koll, Anja Brehm, Petra Seemann, Katarina Dathe, Sigmar Stricker, Jochen Hecht, Kristin Bosse, Regina C. Betz, Francesco Garaci, Bruno Dallapiccola, Mahim Jain, Maximilian Muenke, Vivian Ng, Wilson Chan, Danny Chan, Stefan Mundlos

    出版 2010
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  6. 6
    Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing

    Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing 由 David R. Murdock, Hongzheng Dai, Lindsay C. Burrage, Jill A. Rosenfeld, Shamika Ketkar, Michaela Müller, Vicente A. Yépez, Julien Gagneur, Pengfei Liu, Shan Chen, Mahim Jain, Gladys Zapata, Carlos A. Bacino, Hsiao‐Tuan Chao, Paolo Moretti, William J. Craigen, Neil A. Hanchard, Brendan Lee

    出版 2020
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  7. 7
    Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta

    Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta 由 Sunil Bellur, Mahim Jain, David Cuthbertson, Deborah Krakow, Jay R. Shapiro, Robert D. Steiner, Peter A. Smith, Michael B. Bober, Tracy Hart, J. Krischer, Mary A. Mullins, Peter H. Byers, Melanie Pepin, Michaela Durigova, Francis H. Glorieux, Frank Rauch, V. Reid Sutton, B. Lee, Sandesh C.S. Nagamani

    出版 2015
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  8. 8
    Asprosin is a centrally acting orexigenic hormone

    Asprosin is a centrally acting orexigenic hormone 由 Clemens Duerrschmid, Yanlin He, Chunmei Wang, Chia Li, Juan C. Bournat, Chase Romere, Pradip Saha, Mark E. Lee, Kevin J. Phillips, Mahim Jain, Peilin Jia, Zhongming Zhao, Mónica Farías, Qi Wu, Dianna M. Milewicz, V. Reid Sutton, David D. Moore, Nancy F. Butte, Michael J. Krashes, Yong Xu, Atul R. Chopra

    出版 2017
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  9. 9
    Asprosin, a Fasting-Induced Glucogenic Protein Hormone

    Asprosin, a Fasting-Induced Glucogenic Protein Hormone 由 Chase Romere, Clemens Duerrschmid, Juan C. Bournat, Petra Constable, Mahim Jain, Fan Xia, Pradip Saha, Maria del Solar, Bokai Zhu, Brian York, Poonam Sarkar, David A. Rendon, M. Waleed Gaber, Scott A. LeMaire, Joseph S. Coselli, Dianna M. Milewicz, V. Reid Sutton, Nancy F. Butte, David D. Moore, Atul R. Chopra

    出版 2016
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  10. 10
    Additional <i>EFNB1</i> mutations in craniofrontonasal syndrome

    Additional <i>EFNB1</i> mutations in craniofrontonasal syndrome 由 Deeann Wallis, Felicitas Lacbawan, Mahim Jain, Vazken M. Der Kaloustian, Carlos Eduardo Steiner, John B. Moeschler, H. Wolfgang Losken, Ilkka Kaitila, Stephen Cantrell, Virginia K. Proud, John C. Carey, Donald W. Day, Dorit Lev, Ahmad S. Teebi, Luther K. Robinson, H. Eugene Hoyme, N.A. Al‐Torki, Jacqueline Siegel‐Bartelt, John B. Mulliken, Nathaniel H. Robin, Dolores Saavedra, Elaine H. Zackai, Maximilian Muenke

    出版 2008
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  11. 11
    Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study

    Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study 由 Mahim Jain, Allison Tam, Jay R. Shapiro, Robert D. Steiner, Peter A. Smith, Michael B. Bober, Tracy Hart, David Cuthbertson, J. Krischer, Mary A. Mullins, Sunil Bellur, Peter H. Byers, Melanie Pepin, Michaela Durigova, Francis H. Glorieux, Frank Rauch, Brendan Lee, V. Reid Sutton, David R. Eyre, Deborah Krakow, Laura L. Tosi, Cathleen Raggio, Eric Orwoll, Eric T. Rush, Sandesh C.S. Nagamani

    出版 2018
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  12. 12
    A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

    A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development 由 Anu Bashamboo, Patricia A. Donohoue, Éric Vilain, Sandra Rojo, Pierre Calvel, Sumudu Nimali Seneviratne, Federica Buonocore, Hayk Barseghyan, Nathan C. Bingham, Jill A. Rosenfeld, Surya N. Mulukutla, Mahim Jain, Lindsay C. Burrage, Shweta U. Dhar, Ashok Balasubramanyam, Brendan Lee, Marie-Charlotte Dumargne, Caroline Eozénou, Jenifer P. Suntharalingham, KSH De Silva, Lin Lin, Joëlle Bignon-Topalovic, Françis Poulat, Carlos F. Lagos, Ken McElreavey, John C. Achermann

    出版 2016
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  13. 13
    A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD

    A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD 由 Mahim Jain, Jorge I. Vélez, Maria T. Acosta, Luis Palacio, József Á. Balog, Erich Roessler, David Pineda, Ana C. Londoño, Juan David Palacio, A Arbelaez, Francisco Lopera, Josephine Elia, Hákon Hákonarson, Christiane Seitz, Christine M. Freitag, Haukur Pálmason, Jobst Meyer, Marcel Romanos, Susanne Walitza, U. Hemminger, Andreas Warnke, Jasmin Romanos, Tobias Renner, Christian Jacob, Klaus‐Peter Lesch, James M. Swanson, F. Xavier Castellanos, Joan E. Bailey‐Wilson, Mauricio Arcos‐Burgos, Maximilian Muenke

    出版 2011
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  14. 14
    Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

    Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome 由 M. Cecilia Poli, Frédéric Ebstein, Sarah K. Nicholas, Marietta M. de Guzman, Lisa R. Forbes, Iván K. Chinn, Emily M. Mace, Tiphanie P. Vogel, Alexandre F. Carisey, Felipe Benavides, Zeynep Coban‐Akdemir, Richard A. Gibbs, Shalini N. Jhangiani, Donna M. Muzny, Claudia M.B. Carvalho, Deborah Schady, Mahim Jain, Jill A. Rosenfeld, Lisa Emrick, Richard A. Lewis, Brendan Lee, Barbara A. Zieba, Sébastien Küry, Elke Krüger, James R. Lupski, Bret L. Bostwick, Jordan S. Orange

    出版 2018
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  15. 15
    Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

    Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome 由 Seema R. Lalani, Jing Zhang, Christian P. Schaaf, Chester Brown, Pilar Magoulas, Anne Chun‐Hui Tsai, Areeg El‐Gharbawy, Klaas J. Wierenga, Dennis Bartholomew, Chin-To Fong, Tina Barbaro‐Dieber, Mary K. Kukolich, Lindsay C. Burrage, Elise G. Austin, Kory Keller, Matthew Pastore, Fabio Fernandez, Timothy Lotze, Angus A. Wilfong, Gabriela Purcarin, Wenmiao Zhu, William J. Craigen, Marianne McGuire, Mahim Jain, Erin Cooney, Mahshid S. Azamian, Matthew N. Bainbridge, Donna M. Muzny, Eric Boerwinkle, Richard Person, Zhiyv Niu, Christine M. Eng, James R. Lupski, Richard A. Gibbs, Arthur L. Beaudet, Yaping Yang, Meng C. Wang, Fan Xia

    出版 2014
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  16. 16
    Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

    Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants 由 Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld, Alistair T. Pagnamenta, Abdulrahman Alswaid, Eva H. Baker, Edward Blair, Guntram Borck, Julia Brinkmann, William Craigen, Vũ Chí Dũng, Lisa Emrick, David B. Everman, Koen L.I. van Gassen, Süleyman Gülsüner, Margaret Harr, Mahim Jain, Alma Kuechler, Kathleen A. Leppig, Donna M. McDonald‐McGinn, Ngoc Thi Bich Can, Amir Peleg, Elizabeth Roeder, R. Curtis Rogers, Lena Sagi‐Dain, Julie C. Sapp, Alejandro A. Schäffer, Denny Schanze, Helen Stewart, Jenny C. Taylor, Nienke E. Verbeek, Magdalena Walkiewicz, Elaine H. Zackai, Christiane Zweier, Martin Zenker, Brendan Lee, Leslie G. Biesecker

    出版 2018
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  17. 17
    The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

    The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis 由 Karin Weiss, Hayley P. Lazar, Alina Kurolap, Ariel F. Martinez, Tamar Paperna, Lior Cohen, Marie Falkenberg Smeland, Sandra Whalen, Solveig Heide, Boris Keren, Pauline Terhal, Melita Irving, Motoki Takaku, John D. Roberts, Robert M. Petrovich, Samantha A. Schrier Vergano, Amy Kenney, Hanne Hove, Elizabeth T. DeChene, Shane C. Quinonez, Estelle Colin, Alban Ziegler, Melissa Rumple, Mahim Jain, Danielle Monteil, Elizabeth Roeder, Kimberly Nugent, Arie van Haeringen, Michael J. Gambello, Avni Santani, Līvija Medne, Bryan L. Krock, Cara Skraban, Elaine H. Zackai, Holly Dubbs, Thomas Smol, Jamal Ghoumid, Michael Parker, Michael Wright, Peter D. Turnpenny, Jill Clayton‐Smith, Kay Metcalfe, Hitoshi Kurumizaka, Bruce D. Gelb, Hagit Baris Feldman, Philippe M. Campeau, Maximilian Muenke, Paul A. Wade, Katherine Lachlan

    出版 2019
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  18. 18
    A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication

    A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication 由 Mauricio Arcos‐Burgos, Mahim Jain, Maria T. Acosta, Sharon B. Shively, Horia Stanescu, David H. Wallis, Sabina Domené, Jorge I. Vélez, Jayaprakash D. Karkera, József Á. Balog, K Berg, Robert Kleta, William A. Gahl, Erich Roessler, Rui Long, J. Lie, David Pineda, Ana C. Londoño, Juan David Palacio, A Arbelaez, Francisco Lopera, Josephine Elia, Hákon Hákonarson, Stefan Johansson, P.M. Knappskog, Jan Haavik, Marta Ribasés, Bru Cormand, Mónica Bayés, Miguel Casas, Josep Antoni Ramos‐Quiroga, Amaia Hervás, Brion S. Maher, Stephen V. Faraone, Christiane Seitz, Christine M. Freitag, Haukur Pálmason, Jobst Meyer, Marcel Romanos, Susanne Walitza, U. Hemminger, Andreas Warnke, Jasmin Romanos, Tobias Renner, Christian Jacob, Klaus‐Peter Lesch, James M. Swanson, Alexander O. Vortmeyer, Joan E. Bailey‐Wilson, F. Xavier Castellanos, Maximilian Muenke

    出版 2010
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  19. 19
    Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure

    Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure 由 Markus Reichold, Enriko Klootwijk, Jörg Reinders, Edgar A. Otto, Mario Milani, Carsten Broeker, Chris Laing, J. Wiesner, Sulochana Devi, Weibin Zhou, Roland Schmitt, Ines Tegtmeier, Christina Sterner, Hannes Doellerer, Kathrin Renner, Peter J. Oefner, Katja Dettmer, Johann M.B. Simbuerger, Ralph Witzgall, Horia Stanescu, Simona Dumitriu, Daniela Iancu, Vaksha Patel, Monika Mozere, Mehmet Tekman, Graciana Jaureguiberry, Naomi Issler, Anne Kesselheim, Stephen B. Walsh, Daniel P. Gale, Alexander J. Howie, Joana Raquel Martins, Andrew M. Hall, Michael Kasgharian, Kevin O’Brien, Carlos R. Ferreira, Paldeep S. Atwal, Mahim Jain, Alexander Hammers, Geoff Charles‐Edwards, Chi‐un Choe, Dirk Isbrandt, Alberto Cebrian-Serrano, Benjamin Davies, Richard Sandford, Christopher W. Pugh, David Konecki, Sue Povey, Detlef Böckenhauer, Uta Lichter‐Konecki, William A. Gahl, Robert J. Unwin, Richard Warth, Robert Kleta

    出版 2018
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  20. 20
    SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

    SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals 由 Bobby G. Ng, Paulina Sosicka, Satish Agadi, Mohammed Almannai, Carlos A. Bacino, Rita Barone, Lorenzo D. Botto, Jennifer Burton, Colleen M. Carlston, Brian Hon‐Yin Chung, Julie S. Cohen, David Coman, Katrina M. Dipple, Naghmeh Dorrani, William B. Dobyns, Abdallah F. Elias, Leon G. Epstein, William A. Gahl, Domenico Garozzo, Trine Bjørg Hammer, Jaclyn Haven, Delphine Héron, Matthew Herzog, George Hoganson, Jesse M. Hunter, Mahim Jain, Jane Juusola, Shenela Lakhani, Hane Lee, Joy Lee, Cathryn M. Lewis, Nicola Longo, Charles Marques Lourenço, Christopher Chun Yu Mak, Dianalee McKnight, Bryce A. Mendelsohn, Cyril Mignot, Ghayda Mirzaa, Wendy G. Mitchell, Hiltrud Muhle, Stanley F. Nelson, Mariusz Olczak, Christina G.S. Palmer, Arthur Partikian, Marc C. Patterson, Tyler Mark Pierson, Shane C. Quinonez, Brigid M. Regan, M. Elizabeth Ross, María J. Guillen Sacoto, Fernando Scaglia, Ingrid E. Scheffer, Devorah Segal, Nilika S. Singhal, Pasquale Striano, Luisa Sturiale, Joseph D. Symonds, Sha Tang, Éric Vilain, Mary Willis, Lynne A. Wolfe, Hui Yang, Shoji Yano, Zöe Powis, Sharon F. Suchy, Jill A. Rosenfeld, Andrew C. Edmondson, Stephanie Grünewald, Hudson H. Freeze

    出版 2019
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