Suchergebnisse - Melissa Lees

Treffer weiter einschränken
  1. 1
    Novel de novo <i><scp>EEF</scp>1A2</i> missense mutations causing epilepsy and intellectual disability

    Novel de novo <i><scp>EEF</scp>1A2</i> missense mutations causing epilepsy and intellectual disability von Wayne Lam, J Gordon Millichap, Dinesh C. Soares, Richard Chin, Ailsa McLellan, David Fitzpatrick, Frances Elmslie, Melissa Lees, G. Bradley Schaefer, Catherine M. Abbott

    Veröffentlicht 2016
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  2. 2
    COLEC10 is mutated in 3MC patients and regulates early craniofacial development

    COLEC10 is mutated in 3MC patients and regulates early craniofacial development von Mustafa M. Munye, Anna Dı́az-Font, Louise Ocaka, Maiken L. Henriksen, Melissa Lees, Angela Brady, Dagan Jenkins, Jenny Morton, Søren Hansen, Chiara Bacchelli, Philip L. Beales, Víctor Hernández-Hernández

    Veröffentlicht 2017
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  3. 3
    European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities

    European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities von Ilse Feenstra, Jiayi Fang, David A. Koolen, A. Siezen, C. R. Evans, R M Winter, Melissa Lees, Mariluce Riegel, Bert B.A. de Vries, Conny M.A. van Ravenswaaij, Albert Schinzel

    Veröffentlicht 2005
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  4. 4
    Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene

    Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene von Stephen R.F. Twigg, Sarah L. Versnel, Gudrun Nürnberg, Melissa Lees, Meenakshi Bhat, Peter Hammond, Raoul C. M. Hennekam, A. Jeannette M. Hoogeboom, Jane A. Hurst, David H. Johnson, Alexis Robinson, Peter Scambler, Dianne Gerrelli, Peter Nürnberg, Irene M.J. Mathijssen, Andrew O.M. Wilkie

    Veröffentlicht 2009
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  5. 5
    DLK1 Is a Novel Link Between Reproduction and Metabolism

    DLK1 Is a Novel Link Between Reproduction and Metabolism von Larissa Gomes, Marina Cunha-Silva, Raiane P Crespo, Carolina Ramos, Luciana Ribeiro Montenegro, Ana Pinheiro Machado Canton, Melissa Lees, Helen Spoudeas, Andrew Dauber, Delanie B. Macedo, Danielle S. Bessa, Gustavo Arantes Rosa Maciel, Edmund Chada Baracat, Alexander A.L. Jorge, Berenice B. Mendonça, Vinícius Nahime Brito, Ana Cláudia Latronico

    Veröffentlicht 2018
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  6. 6
    A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

    A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project von Alexander J. M. Blakes, Htoo A. Wai, Ian Davies, Hassan E. Moledina, April Ruiz, Tessy Thomas, David J. Bunyan, N. Simon Thomas, Christine Burren, Lynn Greenhalgh, Melissa Lees, Amanda Pichini, Sarah Smithson, Ana Lisa Taylor Tavares, Peter O’Donovan, Andrew G. L. Douglas, Nicola Whiffin, Diana Baralle, Jenny Lord

    Veröffentlicht 2022
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  7. 7
    Nicolaides–Baraitser syndrome: Delineation of the phenotype

    Nicolaides–Baraitser syndrome: Delineation of the phenotype von Sérgio B. Sousa, Omar Abdul‐Rahman, Armand Bottani, Valérie Cormier‐Daire, Alan Fryer, Gabriele Gillessen‐Kaesbach, Denise Horn, Dragana Josifova, Alma Kuechler, Melissa Lees, Kay MacDermot, Alex Magee, Fanny Morice‐Picard, Elizabeth C. Rosser, Ajoy Sarkar, Nora Shannon, Irene Stolte‐Dijkstra, Alain Verloès, Emma Wakeling, Louise C. Wilson, Raoul C. M. Hennekam

    Veröffentlicht 2009
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  8. 8
    Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

    Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome von Caroline Rooryck, Anna Dı́az-Font, Daniel P. S. Osborn, Elyes Chabchoub, Víctor Hernández-Hernández, Hanan E. Shamseldin, Joanna Kenny, Aoife Waters, Dagan Jenkins, Ali Al Kaissi, Gabriela Ferraz Leal, Bruno Dallapiccola, Franco A. Carnevale, Maria Bitner‐Glindzicz, Melissa Lees, Raoul C. M. Hennekam, Philip Stanier, Alan J. Burns, Hilde Peeters, Fowzan S. Alkuraya, Philip L. Beales

    Veröffentlicht 2011
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  9. 9
    Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH

    Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH von Joe Rainger, Hemant Bengani, Lauren Campbell, Eric C. Anderson, K. Sokhi, Wayne Lam, Angelika Rieß, Morad Ansari, Sarah Smithson, Melissa Lees, Catherine Mercer, Kathryn J. McKenzie, Tobias Lengfeld, Blanca Gener Querol, Peter Branney, S. McKay, Hilary G. Morrison, Bethan Medina, Marcus Robertson, Jürgen Kohlhase, Christopher T. Gordon, J M Kirk, Dagmar Wieczorek, David Fitzpatrick

    Veröffentlicht 2012
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  10. 10
    Heterozygous truncation mutations of the <i><scp>SMC</scp>1A</i> gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

    Heterozygous truncation mutations of the <i><scp>SMC</scp>1A</i> gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases von Joseph D. Symonds, Shelagh Joss, Kay Metcalfe, Suresh Somarathi, Jamie Cruden, Anita Devlin, Alan Donaldson, Nataliya Di Donato, David Fitzpatrick, Frank J. Kaiser, Anne Katrin Lampe, Melissa Lees, Ailsa McLellan, Tara Montgomery, Vivek Mundada, Lesley Nairn, Ajoy Sarkar, Jens Schallner, Jelena Pozojevic, Ilaria Parenti, Jeen Tan, Peter D. Turnpenny, William Whitehouse, Sameer M. Zuberi

    Veröffentlicht 2017
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  11. 11
    Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

    Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI von Andrea Poretti, Giuseppina Vitiello, Raoul C. M. Hennekam, Filippo Arrigoni, Enrico Bertini, Renato Borgatti, Francesco Brancati, Stefano D’Arrigo, Francesca Faravelli, Lucio Giordano, Thierry A.G.M. Huisman, Miriam Iannicelli, Gerhard Kluger, Mårten Kyllerman, Magnus Landgren, Melissa Lees, Lorenzo Pinelli, Romina Romaniello, Ianina Scheer, Christoph E. Schwarz, Ronen Spiegel, Daniel Tibussek, Enza Maria Valente, Eugen Boltshauser

    Veröffentlicht 2012
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  12. 12
    De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

    De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment von Catherine Rodger, Elisabetta Flex, Rachel Allison, Alba Sanchis-Juan, Marcia A. Hasenahuer, Serena Cecchetti, Courtney E. French, James R. Edgar, Giovanna Carpentieri, Andrea Ciolfi, Francesca Pantaleoni, Alessandro Bruselles, Roberta Onesimo, Giuseppe Zampino, Francesca Marcon, Ester Siniscalchi, Melissa Lees, Deepa Krishnakumar, Emma McCann, Dragana Yosifova, Joanna Jarvis, Michael C. Kruer, Warren A. Marks, Jonathan J. Campbell, Louise Allen, Stefano Gustincich, F. Lucy Raymond, Marco Tartaglia, Evan Reid

    Veröffentlicht 2020
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  13. 13
    Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux

    Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux von Cynthia F. Bartels, Hülya Bükülmez, Pius S. Padayatti, David K. Rhee, Conny M.A. van Ravenswaaij‐Arts, Richard M. Pauli, Stefan Mundlos, David Chitayat, Ling-Yu Shih, L.I. Al-Gazali, Sarina G. Kant, Trevor Cole, Jenny Morton, Valérie Cormier‐Daire, Laurence Faivre, Melissa Lees, Jeremy Kirk, Geert Mortier, Jules G. Leroy, Bernhard Zabel, Chong Ae Kim, Yanick J. Crow, Nancy Braverman, Focco van den Akker, Matthew L. Warman

    Veröffentlicht 2004
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  14. 14
    Clinical and molecular consequences of disease-associated de novo mutations in SATB2

    Clinical and molecular consequences of disease-associated de novo mutations in SATB2 von Hemant Bengani, Mark T. Handley, Mohsan Alvi, Rita Ibitoye, Melissa Lees, Sally Ann Lynch, Wayne Lam, Madeleine Fannemel, Ann Nordgren, H Malmgren, Malin Kvarnung, Sarju Mehta, Shane McKee, Margo Whiteford, Fiona Stewart, Fiona Connell, Jill Clayton‐Smith, Sahar Mansour, Shehla Mohammed, Alan Fryer, Jenny Morton, Detelina Grozeva, Tara Asam, David Moore, Alejandro Sifrim, Jeremy McRae, Matthew E. Hurles, Helen V. Firth, F. Lucy Raymond, Usha Kini, Christoffer Nellåker, David Fitzpatrick

    Veröffentlicht 2017
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  15. 15
    CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

    CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders von Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy, Sarah Marsh, Lorena Travaglini, Stephanie Bielas, Maria Amorini, Dominika Zablocka, Hülya Kayserili, Lihadh Al‐Gazali, Enrico Bertini, Eugen Boltshauser, Marc D’Hooghe, Elisa Fazzi, Elif Yosunkaya Fenerci, Raoul C. M. Hennekam, Andrea Kiss, Melissa Lees, Elysa Marco, Shubha R. Phadke, Luciana Rigoli, Stéphane Romano, Carmelo Salpietro, Elliott H. Sherr, Sabrina Signorini, Petter Strømme, Bernard Stuart, László Sztriha, David Viskochil, Adnan Yüksel, Bruno Dallapiccola, Enza Maria Valente, Joseph G. Gleeson

    Veröffentlicht 2007
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  16. 16
    De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

    De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder von Eduardo Calpena, Alexia Hervieu, Teresa Kaserer, Sigrid M.A. Swagemakers, Jacqueline A.C. Goos, Olajumoke Adeniji-Popoola, María Jesús Ortiz-Ruiz, Tina Barbaro‐Dieber, Lucy Bownass, Eva H. Brilstra, Elise Brimble, Nicola Foulds, Theresa A. Grebe, Aster V. E. Harder, Melissa Lees, Kristin G. Monaghan, Ruth Newbury‐Ecob, Kai‐Ren Ong, Deborah Osio, Francis Jeshira Reynoso Santos, Maura Ruzhnikov, Aida Telegrafi, Ellen van Binsbergen, Marieke F. van Dooren, Peter J. van der Spek, Julian Blagg, Stephen R.F. Twigg, Irene M.J. Mathijssen, Paul A. Clarke, Andrew O.M. Wilkie

    Veröffentlicht 2019
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  17. 17
    The <i>CHD8</i> overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

    The <i>CHD8</i> overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients von Philip J. Ostrowski, Anna Zachariou, Chey Loveday, Ana Beleza‐Meireles, Marta Bértoli, John Dean, Andrew G. L. Douglas, Ian O. Ellis, Alison Foster, John M. Graham, Jennifer Hague, Yvonne Hilhorst‐Hofstee, Mariëtte J.V. Hoffer, Diana Johnson, Dragana Josifova, Sarina G. Kant, Usha Kini, Katherine Lachlan, Wayne Lam, Melissa Lees, Sally Ann Lynch, Silvia Maitz, Shane McKee, Kay Metcalfe, Katherine L. Nathanson, Charlotte W. Ockeloen, Michael Parker, Tyler Mark Pierson, Elisa Rahikkala, Pedro A. Sanchez‐Lara, Alice Spano, Lionel Van Maldergem, Trevor Cole, Sofia Douzgou, Katrina Tatton‐Brown

    Veröffentlicht 2019
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  18. 18
    Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

    Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families von Nadia Akawi, Jeremy F. McRae, Morad Ansari, Meena Balasubramanian, Moira Blyth, Angela F. Brady, Stephen Clayton, Trevor Cole, Charu Deshpande, Tomas Fitzgerald, Nicola Foulds, Richard Francis, George C. Gabriel, Sebastian S. Gerety, Judith Goodship, Emma Hobson, Wendy D. Jones, Shelagh Joss, Daniel A. King, Nikolai Klena, Ajith Kumar, Melissa Lees, Chris Lelliott, Jenny Lord, Dominic McMullan, Mary O’Regan, Deborah Osio, Virginia Piombo, Elena Prigmore, Diana Rajan, Elisabeth Rosser, Alejandro Sifrim, Audrey Smith, G. Jawahar Swaminathan, Peter D. Turnpenny, James W. Whitworth, Caroline F. Wright, Helen V. Firth, Jeffrey C. Barrett, Cecilia Lo, David Fitzpatrick, Matthew E. Hurles

    Veröffentlicht 2015
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  19. 19
    De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

    De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder von Anne Gregor, Lynette G. Sadleir, Reza Asadollahi, Silvia Azzarello‐Burri, Agatino Battaglia, Lilian Bomme Ousager, Paranchai Boonsawat, Ange‐Line Bruel, Rebecca Buchert, Eduardo Calpena, Benjamin Cogné, Bruno Dallapiccola, Felix Distelmaier, Frances Elmslie, Laurence Faivre, Tobias B. Haack, Victoria Harrison, Alex Henderson, David Hunt, Bertrand Isidor, Pascal Joset, Satoko Kumada, Augusta M.A. Lachmeijer, Melissa Lees, Sally Ann Lynch, Francisco Martı́nez, Naomichi Matsumoto, Carey McDougall, Heather C Mefford, Noriko Miyake, Candace T. Myers, Sébastien Moutton, Addie Nesbitt, Antonio Novelli, Carmen Orellana, Anita Rauch, Mónica Roselló, Ken Saida, Avni Santani, Ajoy Sarkar, Ingrid E. Scheffer, Marwan Shinawi, Katharina Steindl, Joseph D. Symonds, Elaine H. Zackai, André Reis, Heinrich Sticht, Christiane Zweier

    Veröffentlicht 2018
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  20. 20
    Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

    Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation von Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, K Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, L Thibaut, Jonathan Williams, Edward Blair, Fiona Blanco‐Kelly, Angela Bloss, Emma Burkitt‐Wright, Natalie Canham, Alexander T. Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A. Hurst, Diana Johnson, Wendy D. Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa Lees, Harry G. Leitch, Jenny E.V. Morton, Andrea H. Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah Shears, Lucy Side, Miranda Splitt, A. Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, R. W. Davies, Andrew O.M. Wilkie, Anne Goriely

    Veröffentlicht 2023
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:

Suchwerkzeuge: