Ngā hua rapu kaituhi :: APM

1

Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips mā Jan Hellemans, Paul Coucke, A Giedion, Anne De Paepe, Peter Krämer, Frits A. Beemer, Geert Mortier

I whakaputaina 2003

Whiwhi kuputuhi katoa
Artigo

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2

Initial cancer genetic counseling consultation: Change in counselees' cognitions and anxiety, and association with addressing their needs and preferences mā Arwen H. Pieterse, Margreet G.E.M. Ausems, Sandra van Dulmen, Frits A. Beemer, Jozien M. Bensing

I whakaputaina 2005

Whiwhi kuputuhi katoa
Artigo

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3

Cancer Genetic Counseling: Communication and Counselees’ Post‐Visit Satisfaction, Cognitions, Anxiety, and Needs Fulfillment mā Arwen H. Pieterse, Sandra van Dulmen, Frits A. Beemer, Jozien M. Bensing, Margreet G.E.M. Ausems

I whakaputaina 2007

Whiwhi kuputuhi katoa
Artigo

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4

Cognitive development in children with 22q11.2 deletion syndrome mā Sasja N. Duijff, Petra Klaassen, Henriëtte F. N. Swanenburg de Veye, Frits A. Beemer, Gerben Sinnema, Jacob Vorstman

I whakaputaina 2012

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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5

Morphological Features in Children with Autism Spectrum Disorders: A Matched Case–Control Study mā Heval Özgen, Gerhard Hellemann, Rebecca K. Stellato, Bertine Lahuis, Emma van Daalen, Wouter Staal, Marije Rozendal, Raoul C. M. Hennekam, Frits A. Beemer, Hermán van Engeland

I whakaputaina 2010

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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6

Spinal complications in osteogenesis imperfecta 47 patients 1–16 years of age mā Raoul Engelbert, Willem J.M. Gerver, Liesbeth J Breslau-Siderius, Yolanda van der Graaf, Hans E. H. Pruijs, J. M. van Doorne, Frits A. Beemer, Paul J.M. Helders

I whakaputaina 1998

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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7

Proline Affects Brain Function in 22q11DS Children with the Low Activity COMT158 Allele mā Jacob Vorstman, Bruce I. Turetsky, Monique E. J. Sijmens-Morcus, Monique G de Sain, Bert Dorland, Mirjam Sprong, Eric Rappaport, Frits A. Beemer, Beverly S. Emanuel, René S. Kahn, Hermán van Engeland, Chantal Kemner

I whakaputaina 2008

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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8

Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome mā Frances R. Goodman, Chiara Bacchelli, Angela F. Brady, Louise Brueton, Jean‐Pierre Fryns, Douglas P. Mortlock, Jeffrey W. Innis, Lewis B. Holmes, Alan E. Donnenfeld, Murray Feingold, Frits A. Beemer, Raoul C. M. Hennekam, Peter Scambler

I whakaputaina 2000

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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9

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors mā Claire Navarro, Juan Cadiñanos, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard, Sébastien Courrier, Irène Boccaccio, Amandine Boyer, Wim J. Kleijer, Anja Wagner, Fabienne Giuliano, Frits A. Beemer, José M.P. Freije, Pierre Cau, Raoul C. M. Hennekam, Carlos López-Otı́n, Catherine Badens, Nicolas Lévy

I whakaputaina 2005

Whiwhi kuputuhi katoa
Artigo

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10

Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism mā Emma van Daalen, Chantal Kemner, Nienke E. Verbeek, Bert van der Zwaag, Trijnie Dijkhuizen, Patrick Rump, Renske H. Houben, Ruben van ‘t Slot, Maretha Jonge, Wouter Staal, Frits A. Beemer, Jacob Vorstman, J. Peter H. Burbach, Hans Kristian Ploos van Amstel, Ron Hochstenbach, Eva H. Brilstra, Martin Poot

I whakaputaina 2011

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Artigo

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11

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy mā Claire Navarro, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard, Irène Boccaccio, Amandine Boyer, David Geneviève, S. Hadj‐Rabia, C. Gaudy‐Marqueste, Henk Sillevis Smitt, P. Vabres, Laurence Bonhomme‐Faivre, Alain Verloès, Ton van Essen, Elisabeth Flori, Raoul C. M. Hennekam, Frits A. Beemer, Nicole Laurent, Martine Le Merrer, Pierre Cau, Nicolas Lévy

I whakaputaina 2004

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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12

Clinical Screening as Compared with DNA Analysis in Families with Multiple Endocrine Neoplasia Type 2A mā Cornelis J.M. Lips, Rudy M. Landsvater, Jo W.M. Höppener, R. A. Geerdink, Geert H. Blijham, Joke M. Jansen-Schillhorn van Veen, Adriaan van Gils, Mireille J. de Wit, Richard Zewald, M J Berends, Frits A. Beemer, Joanneke Brouwers-Smalbraak, Rumo Jansen, Hans Kristian Ploos van Amstel, Theo van Vroonhoven, Thea M. Vroom

I whakaputaina 1994

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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13

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome) mā Martin Zenker, Julia Mayerle, Markus M. Lerch, Andreas Tagariello, Klaus Zerres, Peter R. Durie, Matthias Beier, Georg Hülskamp, Celina Guzmán, Helga Rehder, Frits A. Beemer, Ben C.J. Hamel, P Vanlieferinghen, Ruth Gershoni‐Baruch, Marta Wey Vieira, Miroslav Dumić, Ron Auslender, Vera Lúcia Gil‐da‐Silva‐Lopes, Simone Steinlicht, Manfred Rauh, Stavit Shalev, Christian T. Thiel, Andreas Winterpacht, Yong Tae Kwon, Alexander Varshavsky, André Reis

I whakaputaina 2005

Whiwhi kuputuhi katoa
Artigo

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14

Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism mā Bert van der Zwaag, Lude Franke, Martin Poot, Ron Hochstenbach, Henk A. Spierenburg, Jacob Vorstman, Emma van Daalen, Maretha Jonge, Nienke E. Verbeek, Eva H. Brilstra, Ruben van ‘t Slot, Roel A. Ophoff, Michael A. van Es, Hylke M. Blauw, Jan H. Veldink, Jacobine E. Buizer‐Voskamp, Frits A. Beemer, Leonard H. van den Berg, Cisca Wijmenga, Hans Kristian Ploos van Amstel, Hermán van Engeland, J. Peter H. Burbach, Wouter Staal

I whakaputaina 2009

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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15

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation mā Hans van Bokhoven, Ben C.J. Hamel, Mike Bamshad, Eugenio Sangiorgi, Fiorella Gurrieri, Pascal H. G. Duijf, Kaate R. J. Vanmolkot, Ellen van Beusekom, Sylvia E. C. van Beersum, Jacopo Celli, Gerard Merkx, Romano Tenconi, J. P. Fryns, Alain Verloès, Ruth Newbury‐Ecob, Annick Raas‐Rotschild, Frank Majewski, Frits A. Beemer, Andreas Janecke, David Chitayat, Giangiorgio Crisponi, Hülya Kayserili, John R.W. Yates, Giovanni Neri, Han G. Brunner

I whakaputaina 2001

Whiwhi kuputuhi katoa
Artigo

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16

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients mā Tingwei Guo, Donna M. McDonald‐McGinn, Anna Błońska, Alan Shanske, Anne S. Bassett, Eva W.C. Chow, Mark Bowser, Molly B. Sheridan, Frits A. Beemer, Koenraad Devriendt, Ann Swillen, Jeroen Breckpot, Maria Cristina Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob D. Johnson, Jonathan H. Chung, Anne Marie Higgins, Nicole Philip, Tony J. Simon, Karlene Coleman, Damián Heine‐Suñer, Jordi Rosell, Wendy R. Kates, Marcella Devoto, Elizabeth Goldmuntz, Elaine H. Zackai, Tao Wang, Robert J. Shprintzen, Beverly S. Emanuel, Bernice E. Morrow

I whakaputaina 2011

Whiwhi kuputuhi katoa
Artigo

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17

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients mā Kristien Hoornaert, Inge Vereecke, Chantal Dewinter, Thomas Rosenberg, Frits A. Beemer, Jules G. Leroy, Laila Bendix, Erik Björck, M Bonduelle, Odile Boute, Valérie Cormier‐Daire, Christine De Die-Smulders, Anne Dieux‐Coëslier, Hélène Dollfus, Mariet Elting, Andrew Green, Veronica Ileana Guerci, Raoul C. M. Hennekam, Yvonne Hilhorts-Hofstee, Muriel Holder, Carel C B Hoyng, Kristi Jones, Dragana Josifova, Ilkka Kaitila, Suzanne Kjaergaard, Yolande H Kroes, Kristina Lagerstedt‐Robinson, Melissa Lees, Martine LeMerrer, Cinzia Magnani, Carlo Marcelis, Loreto Martorell, Michèle Mathieu, Meriel McEntagart, Angela Mendicino, Jenny Morton, Gabrielli Orazio, Véronique Paquis, Orit Reish, K. O. J. Simola, Sarah Smithson, I. Karen Temple, Elisabeth Van Aken, Yolande van Bever, Jenneke van den Ende, Johanna M. van Hagen, Leopoldo Zelante, Riina Žordania, Anne De Paepe, Bart P. Leroy, Marc De Buyzere, Paul Coucke, Geert Mortier

I whakaputaina 2010

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Artigo

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