Ngā hua rapu kaituhi :: APM

1

Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia. mā J. P. Fryns

I whakaputaina 1987

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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2

Cowden syndrome. mā AD Hanssen, J. P. Fryns

I whakaputaina 1995

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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3

Cardiovascular malformations in Turner's and Noonan's syndrome. mā Lucas G. Van Der Hauwaert, J P Fryns, M Dumoulin, N. Logghe

I whakaputaina 1978

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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4

The annual incidence of DiGeorge/velocardiofacial syndrome. mā Koenraad Devriendt, J. P. Fryns, Geert Mortier, M N van Thienen, Kathelijn Keymolen

I whakaputaina 1998

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Carta

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5

Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. mā Ann Swillen, K Devriendt, Eric Legius, Bénédicte Eyskens, M Dumoulin, Marc Gewillig, J P Fryns

I whakaputaina 1997

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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6

Psychological distress in the 5-year period after predictive testing for Huntington's disease mā Marleen Decruyenaere, Gerry Evers‐Kiebooms, T Cloostermans, Andrea Boogaerts, Koen Demyttenaere, René Dom, J. P. Fryns

I whakaputaina 2003

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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7

Minimum prevalence, birth incidence and cause of death for Prader–Willi syndrome in Flanders mā Annick Vogels, Jenneke van den Ende, Kathelijn Keymolen, Geert Mortier, Koenraad Devriendt, Eric Legius, J P Fryns

I whakaputaina 2003

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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8

Prediction of psychological functioning one year after the predictive test for Huntington's disease and impact of the test result on reproductive decision making. mā Marleen Decruyenaere, Gerry Evers‐Kiebooms, Andrea Boogaerts, J J Cassiman, T Cloostermans, Koen Demyttenaere, R. Dom, J. P. Fryns, Herman Van den Berghe

I whakaputaina 1996

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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9

What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate mā Evelyne Vanneste, Thierry Voet, Cindy Melotte, Sophie Debrock, Karen Sermon, C. Staessen, I. Liebaers, J P Fryns, Thomas D’Hooghe, Joris Vermeesch

I whakaputaina 2009

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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10

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients mā Bernard Thienpont, Luc Mertens, Thomy de Ravel, B. Eyskens, Derize Boshoff, N Maas, J. P. Fryns, Marc Gewillig, Joris Vermeesch, K. Devriendt

I whakaputaina 2007

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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11

Deletions in the<i>VPS13B</i>(<i>COH1</i>) gene as a cause of Cohen syndrome mā Irina Balikova, A‐E Lehesjoki, Thomy de Ravel, Bernard Thienpont, Kate Chandler, Jill Clayton‐Smith, A L Träskelin, J-P. Fryns, Joris Vermeesch

I whakaputaina 2009

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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12

Single-cell chromosomal imbalances detection by array CGH mā Cédric Le Caignec, Claudia Spits, Karen Sermon, Martine De Rycke, Bernard Thienpont, Sophie Debrock, C. Staessen, Yves Moreau, J. P. Fryns, A. Van Steirteghem, I. Liebærs, Joris Vermeesch

I whakaputaina 2006

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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13

The C20orf133 gene is disrupted in a patient with Kabuki syndrome mā Nicole Maas, Tom Van de Putte, Cindy Melotte, Annick Francis, Connie Schrander‐Stumpel, Damien Sanlaville, David Geneviève, Stanislas Lyonnet, Boyan Dimitrov, Koenraad Devriendt, J P Fryns, Joris Vermeesch

I whakaputaina 2007

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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14

Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. mā Bert Ba de Vries, J. P. Fryns, Merlin G. Butler, F Canziani, Eveline Wesby–van Swaay, J. O. Van Hemel, Ben A. Oostra, D. J. J. Halley, Martinus F. Niermeijer

I whakaputaina 1993

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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15

Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome mā Petr Vyleťal, Martina Kublová, Marie Hubálek Kalbáčová, Kateřina Hodaňová, Veronika Barešová, Blanka Stibůrková, Jakub Sikora, Helena Hůlková, J Živný, Jacek Majewski, Anne Simmonds, J. P. Fryns, Gopalakrishnan Venkat‐Raman, M. Elleder, Stanislav Kmoch

I whakaputaina 2006

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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16

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism mā Frédéric Laumonnier, Cheryl Shoubridge, Catherine Antar, Lam Son Nguyen, Hilde Van Esch, Tjitske Kleefstra, Sylvain Briault, J. P. Fryns, B Hamel, Jamel Chelly, Hans‐Hilger Ropers, Nathalie Ronce, S. Blesson, Claude Moraine, Jozef Gécz, Martine Raynaud

I whakaputaina 2009

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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17

Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome mā Sibel Kantarci, David Casavant, Carlos E. Prada, Matthew Russell, Janice L. B. Byrne, Louise Wilkins Haug, Rebecca B. Jennings, Simon M. Manning, Theonia K. Boyd, J. P. Fryns, Lewis B. Holmes, Patricia K. Donahoe, C. Lee, Virginia Kimonis, Barbara R. Pober

I whakaputaina 2005

Whiwhi kuputuhi katoa
Artigo

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18

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unc... mā Paul Brady, Barbara Delle Chiaie, Gabrielle Christenhusz, Kris Dierickx, Kris Van Den Bogaert, Björn Menten, Sandra Janssens, Paul Defoort, Ellen Roets, E Sleurs, Kathelijn Keymolen, Luc De Catte, Jan Deprest, Thomy de Ravel, Hilde Van Esch, J. P. Fryns, Koenraad Devriendt, Joris Vermeesch

I whakaputaina 2013

Whiwhi kuputuhi katoa
Artigo

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19

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB mā Louise S. Bicknell, Claire Farrington‐Rock, Yousef Shafeghati, Patrick Rump, Yasemin Alanay, Yves Alembik, Navid Almadani, Helen V. Firth, Mohamad Hasan Kariminejad, Chong Ae Kim, Kathryn Leask, Melissa K. Maisenbacher, Ellen Moran, John Pappas, Paolo Prontera, Thomy de Ravel, J. P. Fryns, Elizabeth Sweeney, Alan Fryer, Sheila Unger, Louise C. Wilson, Ralph S. Lachman, David L. Rimoin, Daniel H. Cohn, Deborah Krakow, Stephen P. Robertson

I whakaputaina 2006

Whiwhi kuputuhi katoa
Artigo

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20

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1 mā Anne Slavotinek, Sergio E. Baranzini, Denny Schanze, Cassandre Labelle‐Dumais, Kieran M. Short, Richard C. Chao, Mani Yavi, Emilia K. Bijlsma, Catherine Chu, Stacy L. Musone, Amanda Wheatley, Pui‐Yan Kwok, Sandra L. Marles, J. P. Fryns, A. Murat Maga, Mohamed G. Hassan, Douglas B. Gould, Lohith Madireddy, Chumei Li, Timothy C. Cox, Ian Smyth, Albert E. Chudley, Martin Zenker

I whakaputaina 2011

Whiwhi kuputuhi katoa
Artigo

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