Výsledky vyhledávání - Jeff M. Milunsky

  • Zobrazuji výsledky 1 - 11 z 11
Upřesnit hledání
  1. 1
    Diagnosis of Chronic Intestinal Pseudo‐obstruction and Megacystis by Sequencing the <i>ACTG2</i> Gene

    Diagnosis of Chronic Intestinal Pseudo‐obstruction and Megacystis by Sequencing the <i>ACTG2</i> Gene Autor Aubrey Milunsky, Clinton T. Baldwin, Xiaoying Zhang, Daniel Primack, Adrian Curnow, Jeff M. Milunsky

    Vydáno 2017
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  2. 2
    Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encoding Noggin*

    Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encod... Autor David J. Brown, Theresa B. Kim, Elizabeth M. Petty, Catherine A. Downs, Donna M. Martin, Peter J. Strouse, Sayoko E. Moroi, Jeff M. Milunsky, Marci M. Lesperance

    Vydáno 2002
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  3. 3
    TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

    TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome Autor Jeff M. Milunsky, Tom A. Maher, Geping Zhao, Amy E. Roberts, Heather J. Stalker, Roberto T. Zori, Michelle N. Burch, Michele Clemens, John B. Mulliken, Rosemarie Smith, Angela E. Lin

    Vydáno 2008
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  4. 4
    A Neuroligin-4 Missense Mutation Associated with Autism Impairs Neuroligin-4 Folding and Endoplasmic Reticulum Export

    A Neuroligin-4 Missense Mutation Associated with Autism Impairs Neuroligin-4 Folding and Endoplasmic Reticulum Export Autor Chen Zhang, Jeff M. Milunsky, Stephanie Newton, Jaewon Ko, Geping Zhao, Tom A. Maher, Helen Tager‐Flusberg, Marc Bolliger, Alice S. Carter, Antony A. Boucard, Craig M. Powell, Thomas C. Südhof

    Vydáno 2009
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  5. 5
    Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination

    Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination Autor David Margolin, Maria Kousi, Yee-Ming Chan, Elaine T. Lim, Jeremy D. Schmahmann, Marios Hadjivassiliou, Janet E. Hall, Ibrahim Ismael Adam, Andrew Dwyer, Lacey Plummer, Stephanie V. Aldrin, Julia A. O’Rourke, Andrew Kirby, Kasper Lage, Aubrey Milunsky, Jeff M. Milunsky, Jennifer A. Chan, E. Tessa Hedley‐Whyte, Mark J. Daly, Nicholas Katsanis, Stephanie B. Seminara

    Vydáno 2013
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  6. 6
    CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

    CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions Autor Darci T. Butcher, Cheryl Cytrynbaum, Andrei L. Turinsky, Michelle T. Siu, Michal Inbar‐Feigenberg, Roberto Mendoza‐Londono, David Chitayat, Susan Walker, Jerry Machado, Oana Caluseriu, Lucie Dupuis, Daria Grafodatskaya, William Reardon, Brigitte Gilbert‐Dussardier, Alain Verloès, Frédéric Bilan, Jeff M. Milunsky, Raveen Basran, Blake C. Papsin, Tracy Stockley, Stephen W. Scherer, Sanaa Choufani, Michael Brudno, Rosanna Weksberg

    Vydáno 2017
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  7. 7
    Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients

    Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients Autor Robert L. Conway, Barry D. Pressman, William B. Dobyns, Moise Danielpour, John Lee, Pedro A. Sanchez‐Lara, Merlin G. Butler, Elaine H. Zackai, Lindsey Campbell, Sulagna C. Saitta, Carol L. Clericuzio, Jeff M. Milunsky, H. Eugene Hoyme, Joseph T.C. Shieh, John B. Moeschler, Barbara F. Crandall, Julie Lauzon, David Viskochil, Brian Harding, John M. Graham

    Vydáno 2007
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  8. 8
    Clinical Genetic Testing for Patients With Autism Spectrum Disorders

    Clinical Genetic Testing for Patients With Autism Spectrum Disorders Autor Yiping Shen, Kira A. Dies, Ingrid A. Holm, Carolyn Bridgemohan, Magdi M. Sobeih, Elizabeth Caronna, Karen J. Miller, Jean A. Frazier, Iris Silverstein, Jonathan Picker, Laura Weissman, Peter Raffalli, Shafali Jeste, Laurie Demmer, Heather Peters, Stephanie J. Brewster, Sara J. Kowalczyk, Beth Rosen‐Sheidley, Caroline McGowan, Andrew W. Duda, Sharyn A. Lincoln, Kathryn Lowe, Alison Schonwald, Michael Robbins, Fuki M. Hisama, Robert R. Wolff, Ronald E. Becker, Ramzi Nasir, David K. Urion, Jeff M. Milunsky, Leonard Rappaport, James F. Gusella, Christopher A. Walsh, Bai-Lin Wu, David T. Miller

    Vydáno 2010
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  9. 9
    A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

    A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome Autor Theodore G. Drivas, Dong Li, Divya Nair, Joseph T. Alaimo, Mariëlle Alders, Janine Altmüller, Tahsin Stefan Barakat, E. Martina Bebin, Nicole L. Bertsch, Patrick R. Blackburn, Alyssa Blesson, Arjan Bouman, Knut Brockmann, Perrine Brunelle, Margit Burmeister, Gregory M. Cooper, Jonas Denecke, Anne Dieux‐Coëslier, Holly Dubbs, Alejandro Ferrer, Danna Gal, Lauren Bartik, Lauren Gunderson, Linda Hasadsri, Mahim Jain, Catherine Karimov, Beth Keena, Eric W. Klee, Katja Kloth, Baiba Lāce, Marina Macchiaiolo, Julien L. Marcadier, Jeff M. Milunsky, Melanie P. Napier, Xilma R. Ortiz‐González, Pavel N. Pichurin, Jason Pinner, Zöe Powis, Chitra Prasad, Francesca Clementina Radio, Kristen Rasmussen, Deborah L. Renaud, Eric T. Rush, Carol Saunders, Duygu Selcen, Ann Seman, Deepali N. Shinde, Erica D. Smith, Thomas Smol, Lot Snijders Blok, Joan M. Stoler, Sha Tang, Marco Tartaglia, Michelle L. Thompson, Jiddeke M. van de Kamp, Jingmin Wang, Dagmar Weise, Karin Weiss, Rixa Woitschach, Bernd Wollnik, Huifang Yan, Elaine H. Zackai, Giuseppe Zampino, Philippe M. Campeau, Elizabeth Bhoj

    Vydáno 2020
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  10. 10
    Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

    Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients Autor Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout, Caroline Pottinger, Bregje W.M. van Bon, Ivonne J.H.M. van Minderhout, Ronelle Snowdowne, Christian A.C. van der Lans, Merel W. Boogaard, Margot M. Linssen, Linda Vijfhuizen, Michiel J.R. van der Wielen, M.J. Ellen Vollebregt, Martijn H. Breuning, Marjolein Kriek, Arie van Haeringen, Johan T. den Dunnen, Alexander Hoischen, Jill Clayton‐Smith, Bert B.A. de Vries, Raoul C. M. Hennekam, Martine J. van Belzen, Mariam Almureikhi, Anwar Baban, Mafalda Barbosa, Tawfeg Ben‐Omran, Katherine Berry, Stefania Bigoni, Odile Boute, Louise Brueton, Ineke van der Burgt, Natalie Canham, Kate Chandler, Krystyńa Chrzańowska, Amanda Collins, Teresa De Toni, John Dean, Nicolette S. den Hollander, Leigh Anne Flore, Alan Fryer, Alice Gardham, John M. Graham, Victoria Harrison, Denise Horn, Marjolijn C.J. Jongmans, Dragana Josifova, Sarina G. Kant, Seema Kapoor, Helen Kingston, Usha Kini, Tjitske Kleefstra, Małgorzata Krajewska‐Walasek, Nancy Kramer, Saskia M. Maas, Patrı́cia Maciel, Grazia M.S. Mancini, Isabelle Maystadt, Shane McKee, Jeff M. Milunsky, Sheela Nampoothiri, Ruth Newbury‐Ecob, Sarah M. Nikkel, Michael Parker, Luis A. Pérez‐Jurado, Stephen P. Robertson, Caroline Rooryck, Debbie Shears, Margherita Silengo, Ankur Singh, Robert Śmigiel, Gabriela Soares, Miranda Splitt, Helen Stewart, Elizabeth Sweeney, May Tassabehji, Beyhan Tüysüz, Albertien M. van Eerde, Catherine Vincent‐Delorme, Louise C. Wilson, Gözde Yeşil

    Vydáno 2013
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  11. 11
    The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

    The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome Autor Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila Al‐Kindy, Anwar Baban, Allan Bayat, Stefanie Beck‐Wödl, Katherine Berry, Emilia K. Bijlsma, Levinus A. Bok, Alwin F.J. Brouwer, Ineke van der Burgt, Philippe M. Campeau, Natalie Canham, Krystyńa Chrzańowska, Yoyo W. Y. Chu, Brain H.Y. Chung, Karin Dahan, Marjan De Rademaeker, Anne Destrèe, Tracy Dudding‐Byth, Rachel K. Earl, Nursel Elçioğlu, Ellen Roy Elias, Christina Fagerberg, Alice Gardham, Blanca Gener, Erica H. Gerkes, Ute Grasshoff, Arie van Haeringen, Karin R. Heitink, Johanna C. Herkert, Nicolette S. den Hollander, Denise Horn, David Hunt, Sarina G. Kant, Mitsuhiro Kato, Hülya Kayserili, Rogier Kersseboom, Esra KAYA KILIÇ, Małgorzata Krajewska‐Walasek, Kylin Lammers, Lone Walentin Laulund, Damien Lederer, Melissa Lees, Vanesa López‐González, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Francisco Martı́nez, Isabelle Maystadt, Marianne McGuire, Shane McKee, Sarju Mehta, Kay Metcalfe, Jeff M. Milunsky, Seiji Mizuno, John B. Moeschler, Christian Netzer, Charlotte W. Ockeloen, Barbara Oehl‐Jaschkowitz, Nobuhiko Okamoto, Sharon N.M. Olminkhof, Carmen Orellana, Laurent Pasquier, Caroline Pottinger, Vera Riehmer, Stephen P. Robertson, Maian Roifman, Caroline Rooryck, Fabienne G. Ropers, Mónica Roselló, Claudia Ruivenkamp, Mahmut Şamil Sağıroğlu, Suzanne C.E.H. Sallevelt, A. Sanchís Calvo, Pelin Özlem Şimşek‐Kiper, Gabriela Soares, Lucia Solaeche, Fatma Müjgan Sönmez, Miranda Splitt, Duco Steenbeek, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, Saori Tanabe, Eyyüp Üçtepe, Gülen Eda Ütine, Hermine E. Veenstra‐Knol, Sunita Venkateswaran, Catheline Vilain, Catherine Vincent‐Delorme, Anneke T. Vulto‐van Silfhout, Patricia G. Wheeler, Golder N. Wilson, Louise C. Wilson, Bernd Wollnik, Tomoki Kosho, Dagmar Wieczorek

    Vydáno 2018
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:

Vyhledávací nástroje: