Ngā hua rapu kaituhi :: APM

1

Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions mā Diana Mitter, Reinhard Ullmann, Artur Muradyan, Ludger Klein‐Hitpaß, Deniz Kanber, Katrin Õunap, Marc Kaulisch, Dietmar Lohmann

I whakaputaina 2011

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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2

Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity mā Emily Brookes, Benoît Laurent, Katrin Õunap, Renée Carroll, John B. Moeschler, Michael Field, Charles E. Schwartz, Jozef Gécz, Yang Shi

I whakaputaina 2015

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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3

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia mā Sanna Puusepp, Karit Reinson, Sander Pajusalu, Ülle Murumets, Eve Õiglane‐Shlik, Reet Rein, Inga Talvik, Richard J. Rodenburg, Katrin Õunap

I whakaputaina 2018

Whiwhi kuputuhi katoa
Artigo

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4

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes mā Deborah Bartholdi, Małgorzata Krajewska‐Walasek, Katrin Õunap, H. Gaspar, Krystyńa Chrzańowska, H Ilyana, Hülya Kayserili, Iosif W. Lurie, Albert Schinzel, Alessandra Baumer

I whakaputaina 2008

Whiwhi kuputuhi katoa
Carta

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5

A missense mutation in the catalytic domain of <i>O</i>‐GlcNAc transferase links perturbations in protein <i>O</i>‐GlcNAcylation to X‐linked intellectual disability mā Veronica M. Pravatà, Mehmet Gundogdu, Sergio G. Bartual, Andrew T. Ferenbach, Marios P. Stavridis, Katrin Õunap, Sander Pajusalu, Riina Žordania, Monica H. Wojcik, Daan M. F. van Aalten

I whakaputaina 2019

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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6

Recommendations for reporting results of diagnostic genomic testing mā Zandra C. Deans, Joo Wook Ahn, Isabel M. Carreira, Elisabeth Dequeker, Mick Henderson, Luca Lovrečić, Katrin Õunap, Melody Tabiner, Rebecca J. L. Treacy, Christi J. van Asperen

I whakaputaina 2022

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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7

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG mā Peter Witters, Shawn Tahata, Rita Barone, Katrin Õunap, Ramona Salvarinova, Sabine Grønborg, George Hoganson, Fernando Scaglia, Andrea M. Lewis, Mari Mori, Jolanta Sykut‐Cegielska, Andrew C. Edmondson, Miao He, Éva Morava

I whakaputaina 2020

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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8

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase mā Veronica M. Pravatà, Michaela Omelková, Marios P. Stavridis, Chelsea Desbiens, Hannah Stephen, Dirk J. Lefeber, Jozef Gécz, Mehmet Gundogdu, Katrin Õunap, Shelagh Joss, Charles E. Schwartz, Lance Wells, Daan M. F. van Aalten

I whakaputaina 2020

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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9

Fertility in adult women with classic galactosemia and primary ovarian insufficiency mā Britt van Erven, Gerard T. Berry, David Cassiman, Geraldine Connolly, María Forga, Matthias Gautschi, Cynthia S. Gubbels, Carla E. M. Hollak, Mirian C. H. Janssen, Ina Knerr, Philippe Labrune, Janneke G. Langendonk, Katrin Õunap, Abel Thijs, Rein Vos, Saskia B. Wortmann, M. Estela Rubio‐Gozalbo

I whakaputaina 2017

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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10

Human light meromyosin mutations linked to skeletal myopathies disrupt the coiled coil structure and myosin head sequestration mā Glenn Carrington, Abbi Hau, Sarah Kosta, Hannah F. Dugdale, Francesco Muntoni, Adele D’Amico, Peter Van den Bergh, Norma B. Romero, Edoardo Malfatti, Juan J. Vílchez, Anders Oldfors, Sander Pajusalu, Katrin Õunap, Marta Giralt‐Pujol, Edmar Zanoteli, Kenneth S. Campbell, Hiroyuki Iwamoto, Michelle Peckham, Julien Ochala

I whakaputaina 2023

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Pré-impressão

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11

Human skeletal myopathy myosin mutations disrupt myosin head sequestration mā Glenn Carrington, Abbi Hau, Sarah Kosta, Hannah F. Dugdale, Francesco Muntoni, Adele D’Amico, Peter Van den Bergh, Norma B. Romero, Edoardo Malfatti, Juan J. Vílchez, Anders Oldfors, Sander Pajusalu, Katrin Õunap, Marta Giralt‐Pujol, Edmar Zanoteli, Kenneth S. Campbell, Hiroyuki Iwamoto, Michelle Peckham, Julien Ochala

I whakaputaina 2023

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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12

WNT signalling control by KDM5C during development affects cognition mā Violetta Karwacki-Neisius, Ahram Jang, Engin Cukuroglu, Albert Tai, Alan Jiao, Danilo Predes, Joon Yoon, Emily Brookes, Jiekai Chen, Aimee Iberg, Florian Halbritter, Katrin Õunap, Jozef Gécz, Thorsten M. Schlaeger, Shannan Ho Sui, Jonathan Göke, Xi He, Maria K. Lehtinen, Scott L. Pomeroy, Yang Shi

I whakaputaina 2024

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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13

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression mā Samira Achouitar, Miski Mohamed, Thatjana Gardeitchik, Saskia B. Wortmann, Jolanta Sykut‐Cegielska, Regina Ensenauer, Hélène Ogier de Baulny, Katrin Õunap, Diego Martinelli, Maaike de Vries, Robert McFarland, Dorus Kouwenberg, Miranda Theodore, Frits A. Wijburg, Stephanie Grünewald, Jaak Jaeken, Ron A. Wevers, Leo Nijtmans, Joanna L. Elson, Éva Morava

I whakaputaina 2011

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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14

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature mā Andrea Ciolfi, Erfan Aref‐Eshghi, Simone Pizzi, Lucia Pedace, Evelina Miele, Jennifer Kerkhof, Elisabetta Flex, Simone Martinelli, Francesca Clementina Radio, Claudia Ruivenkamp, Gijs W.E. Santen, Emilia Bijlsma, Daniela Q.C.M. Barge‐Schaapveld, Katrin Õunap, Victoria Mok Siu, R. Frank Kooy, Bruno Dallapiccola, Bekim Sadiković, Marco Tartaglia

I whakaputaina 2020

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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15

Diffuse hypomyelination is not obligate for POLR3-related disorders mā Roberta La Piana, Ferdy Kurniawan Cayami, Luan T. Tran, Kether Guerrero, Rosalina van Spaendonk, Katrin Õunap, Sander Pajusalu, Tobias B. Haack, Evangeline Wassmer, Dagmar Timmann, Hanna Mierzewska, Bwee Tien Poll‐The, Chirag Patel, Helen Cox, Tahir Atık, Hüseyin Önay, Ferda Özkınay, Adeline Vanderver, Marjo S. van der Knaap, Nicole I. Wolf, Geneviève Bernard

I whakaputaina 2016

Whiwhi kuputuhi katoa
Artigo

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16

Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus mā Joséphine Mayer, Emma M. Jenkinson, Paul R. Kasher, Stavros Stivaros, Andrea Berger, Duccio Maria Cordelli, Patrick Ferreira, Rosalind J Jefferson, G Kutschke, Staffan Lundberg, Katrin Õunap, Prab Prabhakar, Calvin Soh, Helen Stewart, Jon Stone, Marjo S. van der Knaap, Hilde Van Esch, Christine Van Mol, Emma Wakeling, Andrea Whitney, Gillian Rice, Yanick J. Crow, John H. Livingston

I whakaputaina 2014

Whiwhi kuputuhi katoa
Artigo

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17

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study mā Anu Suomalainen, Jenni M. Elo, Kirsi H. Pietiläinen, Anna H. Hakonen, Ksenia Sevastianova, Mari Korpela, Pirjo Isohanni, Sanna Marjavaara, Tiina Tyni, Sari Kiuru‐Enari, Helena Pihko, Niklas Darín, Katrin Õunap, Leo A. J. Kluijtmans, Anders Paetau, Jana Buzková, Laurence A. Bindoff, Johanna Annunen‐Rasila, Johanna Uusimaa, Aila Rissanen, Hannele Yki‐Järvinen, Michio Hirano, M. Tulinius, Jan Smeitink, Henna Tyynismaa

I whakaputaina 2011

Whiwhi kuputuhi katoa
Artigo

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18

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow‐up mā Lindsey Welling, Laurie Bernstein, Gerard T. Berry, Alberto Burlina, François Eyskens, Matthias Gautschi, Stephanie Grünewald, Cynthia S. Gubbels, Ina Knerr, Philippe Labrune, Johanna H. van der Lee, Anita MacDonald, Elaine Murphy, P. A. Portnoi, Katrin Õunap, Nancy L. Potter, M. Estela Rubio‐Gozalbo, Jessica B. Spencer, Inge Timmers, Eileen P. Treacy, Sandra C. Van Calcar, Susan E. Waisbren, Annet M. Bosch

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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19

Novel (ovario) leukodystrophy related to <i>AARS2</i> mutations mā Cristina Dallabona, Daria Diodato, Sietske H. Kevelam, Tobias B. Haack, Lee-Jun Wong, Gajja S. Salomons, Enrico Baruffini, Laura Melchionda, Caterina Mariotti, Tim M. Strom, Thomas Meitinger, Holger Prokisch, Colin A. Chapman, Alison Colley, Helena Rocha, Katrin Õunap, Raphael Schiffmann, Ettore Salsano, M. Savoiardo, Eline M. Hamilton, Truus E. M. Abbink, Nicole I. Wolf, Ileana Ferrero, Costanza Lamperti, Massimo Zeviani, Adeline Vanderver, Daniele Ghezzi, Marjo S. van der Knaap

I whakaputaina 2014

Whiwhi kuputuhi katoa
Artigo

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20

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number mā Kyle Thompson, Homa Majd, Cristina Dallabona, Karit Reinson, Martin S. King, Charlotte L. Alston, Langping He, Tiziana Lodi, Simon Jones, Aviva Fattal‐Valevski, Nitay Fraenkel, Ann Saada, Alon Haham, Pirjo Isohanni, Roshni Vara, Inês A. Barbosa, Michael A. Simpson, Charu Deshpande, Sanna Puusepp, Penelope E. Bonnen, Richard J. Rodenburg, Anu Suomalainen, Katrin Õunap, Orly Elpeleg, Ileana Ferrero, Robert McFarland, Edmund R.S. Kunji, Robert W. Taylor

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Errata/Corrigenda

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