Ngā hua rapu kaituhi :: APM

1

Stepwise ABC system for classification of any type of genetic variant mā Gunnar Houge, Andreas Laner, Sebahattin Çırak, Nicole de Leeuw, Hans Scheffer, Johan T. den Dunnen

I whakaputaina 2021

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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2

Scanning electron microscopy of a blister roof in dystrophic epidermolysis bullosa mā Hiram Larangeira de Almeida, Luciane Maria Alves Monteiro, Ricardo Marques e Silva, Nara Moreira Rocha, Hans Scheffer

I whakaputaina 2013

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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3

Revertant Mosaicism in Epidermolysis Bullosa Caused by Mitotic Gene Conversion mā Marcel F. Jonkman, Hans Scheffer, Rein P. Stulp, Hendri H. Pas, Miranda Nijenhuis, K Heeres, Katsushi Owaribe, Leena Pulkkinen, Jouni Uitto

I whakaputaina 1997

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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4

The Association Between HTR2C Gene Polymorphisms and the Metabolic Syndrome in Patients With Schizophrenia mā Hans Mulder, Barbara Franke, Annemarie Aart van der- Beek van der, Johan Arends, Frederik W. Wilmink, Hans Scheffer, Toine C. G. Egberts

I whakaputaina 2007

Whiwhi kuputuhi katoa
Artigo

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5

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 mā Erik‐Jan Kamsteeg, Wolfram Kreß, Claudio Catalli, Jens Michael Hertz, Martina Witsch‐Baumgartner, Michael F. Buckley, Baziel G.M. van Engelen, Marianne Schwartz, Hans Scheffer

I whakaputaina 2012

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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6

The expanding phenotype of<i>POMT1</i>mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation mā Jeroen van Reeuwijk, Svetlana Maugenre, Christa van den Elzen, Aad Verrips, Enrico Bertini, Francesco Muntoni, Luciano Merlini, Hans Scheffer, Han G. Brunner, Pascale Guicheney, Hans van Bokhoven

I whakaputaina 2006

Whiwhi kuputuhi katoa
Artigo

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7

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders mā Bart P.C. van de Warrenburg, Meyke Schouten, Susanne T. de Bot, Sascha Vermeer, Rowdy Meijer, Maartje Pennings, Christian Gilissen, Michèl AAP Willemsen, Hans Scheffer, Erik‐Jan Kamsteeg

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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8

An association study of 45 folate‐related genes in spina bifida: Involvement of <i>cubilin</i> (<i>CUBN</i>) and <i>tRNA aspartic acid methyltransferase 1</i> (<i>TRDMT1</i>) mā Barbara Franke, Sita H. Vermeulen, Régine P.M. Steegers‐Theunissen, Marieke J. H. Coenen, Mascha M.V.A.P. Schijvenaars, Hans Scheffer, Martin den Heijer, Henk J. Blom

I whakaputaina 2009

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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9

A Cystic Fibrosis Mutation Associated with Mild Lung Disease mā K. H. Gan, Henk J. Veeze, Ans van den Ouweland, Dicky Halley, Hans Scheffer, Annemieke van der Hout, Shelley E. Overbeek, Johan C. de Jongste, Willem H. Bakker, Harry Heijerman

I whakaputaina 1995

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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10

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia mā Sascha Vermeer, Rowdy Meijer, Benjamin J. Pijl, Janneke Timmermans, J.R.M. Cruysberg, Maaike M. Bos, Helenius J. Schelhaas, Bart P.C. van de Warrenburg, Nine Knoers, Hans Scheffer, B. Kremer

I whakaputaina 2008

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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11

Erratum: Guidelines for diagnostic next-generation sequencing mā Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik A. Sistermans, Marc Sturm, Marjan M. Weiss, Helger G. Yntema, Egbert Bakker, Hans Scheffer, Peter Bauer

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Errata/Corrigenda

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12

Guidelines for diagnostic next-generation sequencing mā Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik A. Sistermans, Marc Sturm, Marjan M. Weiss, Helger G. Yntema, Egbert Bakker, Hans Scheffer, Peter Bauer

I whakaputaina 2015

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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13

Association of the dopamine transporter (<i>SLC6A3/DAT1</i>) gene 9–6 haplotype with adult ADHD mā Barbara Franke, Martine Hoogman, Alejandro Arias Vásquez, J. G. A. M. Heister, Paul J.M. Savelkoul, Marlies Naber, Hans Scheffer, Lambertus A. Kiemeney, Carol Kan, J. J. Sandra Kooij, Jan K. Buitelaar

I whakaputaina 2008

Whiwhi kuputuhi katoa
Artigo

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14

Genotype-phenotype correlations in MYCN-related Feingold syndrome mā Carlo Marcelis, Frans A. Hol, Gail E. Graham, Paul N.M.A. Rieu, Richárd Kellermayer, Rowdy Meijer, Dorien Lugtenberg, Hans Scheffer, Hans van Bokhoven, Han G. Brunner, Arjan P.M. de Brouwer

I whakaputaina 2008

Whiwhi kuputuhi katoa
Artigo

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15

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations mā Elisabeth Dequeker, Manfred Stuhrmann, Michael A. Morris, Teresa Casals, Carlo Castellani, Mireille Claustres, Harry Cuppens, Marie des Georges, Claude Férec, Milan Maçek, Pierfranco Pignatti, Hans Scheffer, Marianne Schwartz, Michał Witt, Martin Schwarz, Emmanuelle Girodon

I whakaputaina 2008

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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16

Effects of Keratin 14 Ablation on the Clinical and Cellular Phenotype in a Kindred with Recessive Epidermolysis Bullosa Simplex mā Marcel F. Jonkman, K Heeres, Hendri H. Pas, Marja J.A. van Luyn, Job D. Elema, Laura D. Corden, Frances J.D. Smith, W.H. Irwin McLean, Frans C. S. Ramaekers, Margaret Burton, Hans Scheffer

I whakaputaina 1996

Whiwhi kuputuhi katoa
Artigo

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17

Mechanisms of Natural Gene Therapy in Dystrophic Epidermolysis Bullosa mā Dimitra Kiritsi, Marta García, Renske Brander, Cristina Has, Rowdy Meijer, M.J. Escámez, J. Kohlhase, Peter C. van den Akker, Hans Scheffer, Marcel F. Jonkman, Marcela Del Río, Leena Bruckner‐Tuderman, Anna M.G. Pasmooij

I whakaputaina 2014

Whiwhi kuputuhi katoa
Artigo

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18

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations mā Susanne T. de Bot, R. T. M. van den Elzen, Arjen R. Mensenkamp, Helenius J. Schelhaas, Michèl A.A.P. Willemsen, Nine V.A.M. Knoers, H.P.H. Kremer, Bart P.C. van de Warrenburg, Hans Scheffer

I whakaputaina 2010

Whiwhi kuputuhi katoa
Artigo

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19

Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics. mā Carla van El, Martina C. Cornel, Pascal Borry, Ros Hastings, Florence Fellmann, Shirley V. Hodgson, Heidi Howard, Anne Cambon‐Thomsen, Bartha Maria Knoppers, Hanne Meijers‐Heijboer, Hans Scheffer, Lisbeth Tranebjærg, Wybo Dondorp, Guido M. W. R. de Wert

I whakaputaina 2013

Whiwhi kuputuhi katoa
Artigo

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20

Whole-genome sequencing in health care mā Carla van El, Martina C. Cornel, Pascal Borry, Ros Hastings, Florence Fellmann, Shirley V. Hodgson, Heidi Howard, Anne Cambon‐Thomsen, Bartha Maria Knoppers, Hanne Meijers‐Heijboer, Hans Scheffer, Lisbeth Tranebjærg, Wybo Dondorp, Guido M. W. R. de Wert

I whakaputaina 2013

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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