תוצאות חיפוש - Inderneel Sahai

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  1. 1
    Thiamine-Responsive Megaloblastic Anemia: Identification of Novel Compound Heterozygotes and Mutation Update

    Thiamine-Responsive Megaloblastic Anemia: Identification of Novel Compound Heterozygotes and Mutation Update מאת Anke Bergmann, Inderneel Sahai, Jill Falcone, Judy Fleming, Adam Bagg, Caterina Borgna-Pignati, Robin Casey, Luca Fabris, Elizabeth O. Hexner, Lulu Mathews, Maria Letícia Ribeiro, Klaas J. Wierenga, Ellis J. Neufeld

    יצא לאור 2009
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  2. 2
    Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases

    Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases מאת Rebecca I. Torene, María J. Guillen Sacoto, Francisca Millan, Zhancheng Zhang, Stephen McGee, Matthew T. Oetjens, Elizabeth M. Heise, Karen Chong, Richard Sidlow, Lauren O’Grady, Inderneel Sahai, Christa Lese Martin, David H. Ledbetter, Scott M. Myers, Kevin J. Mitchell, Kyle Retterer

    יצא לאור 2023
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  3. 3
    Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

    Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa מאת Björn Fischer‐Zirnsak, Nathalie Escande‐Beillard, Jaya Ganesh, Yu Xuan Tan, Mohammed Al Bughaili, Angela E. Lin, Inderneel Sahai, Paulina Bahena, Sara L. Reichert, Abigail Loh, Graham Wright, Jaron Liu, Elisa Rahikkala, Enikö K. Pivnick, Asim F. Choudhri, Ulrike Krüger, Tomasz Żemojtel, Conny M.A. van Ravenswaaij‐Arts, Roya Mostafavi, Irene Stolte‐Dijkstra, Sofie Symoens, L. Pajunen, Lihadh Al‐Gazali, David Meierhofer, Peter N. Robinson, Stefan Mundlos, Camilo E. Villarroel, Peter H. Byers, Amira Masri, Stephen P. Robertson, Ulrike Schwarze, Bert Callewaert, Bruno Reversade, Uwe Kornak

    יצא לאור 2015
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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    שמור ב:
  4. 4
    Enhanced interpretation of newborn screening results without analyte cutoff values

    Enhanced interpretation of newborn screening results without analyte cutoff values מאת Gregg Marquardt, Robert J. Currier, David McHugh, Dimitar Gavrilov, Mark J Magera, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Emily H. Smith, Silvia Tortorelli, Coleman Turgeon, Fred Lorey, Bridget Wilcken, Veronica Wiley, Lawrence Greed, Barry Lewis, François Boemer, Roland Schoos, Sandrine Marie, Marie‐Françoise Vincent, Yuri Cleverthon Sica, Mouseline Torquado Domingos, Khalid Al‐Thihli, Graham Sinclair, Osama Y. Al-Dirbashi, Pranesh Chakraborty, Mark Dymerski, Cory Porter, Adrienne Manning, Margretta R. Seashore, Jonessy Quesada, Alejandra Reuben, Petr Chrastina, Petr Horník, Iman Mandour, Sahar Sharaf, Olaf A. Bodamer, Bonifacio Dy, Jasmin Torres, Roberto Zori, David Cheillan, Christine Vianey‐Saban, David Ludvigson, Adrya Stembridge, Jim Bonham, Melanie Downing, Yannis Dotsikas, Yannis L. Loukas, Vagelis Papakonstantinou, Georgios S.A. Zacharioudakis, Ákos Baráth, Eszter Karg, Leifur Franzson, Jón J. Jónsson, Nancy N. Breen, Barbara G. Lesko, Stanton L. Berberich, Kimberley Turner, Margherita Ruoppolo, Emanuela Scolamiero, I. Antonozzi, Claudia Carducci, Ubaldo Caruso, Michela Cassanello, Giancarlo la Marca, Elisabetta Pasquini, Iole Maria Di Gangi, Giuseppe Giordano, Marta Camilot, Francesca Teofoli, Shawn Manos, Colleen K. Peterson, Stephanie K. Mayfield Gibson, Darrin W. Sevier, Soo‐Youn Lee, Hyung‐Doo Park, Issam Khneisser, Phaidra Browning, Fizza Gulamali-Majid, Michael S. Watson, Roger B. Eaton, Inderneel Sahai, Consuelo Ruiz, Rosário Torres, Mary Seeterlin, Eleanor Stanley, Amy Hietala, Mark McCann, Carlene Campbell, Patrick V. Hopkins, Monique G. de Sain-van der Velden, Bert Elvers, Mark A. Morrissey, Sherlykutty Sunny, Detlef Knoll, Dianne Webster, Dianne M. Frazier, Julie McClure, David E. Sesser

    יצא לאור 2012
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  5. 5
    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 מאת 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

    יצא לאור 2018
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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    שמור ב:

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