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Nature communications, 2019-10, Vol.10 (1), p.4630-10, Article 4630
- Gardner, Eugene J
- Prigmore, Elena
- Gallone, Giuseppe
- Danecek, Petr
- Samocha, Kaitlin E
- Handsaker, Juliet
- Gerety, Sebastian S
- Ironfield, Holly
- Short, Patrick J
- Sifrim, Alejandro
- Singh, Tarjinder
- Chandler, Kate E
- Clement, Emma
- Lachlan, Katherine L
- Prescott, Katrina
- Rosser, Elisabeth
- FitzPatrick, David R
- Firth, Helen V
- Hurles, Matthew E
2019
Link zum Volltext
American journal of human genetics, 2011-11, Vol.89 (5), p.675-681
- Clayton-Smith, Jill
- O'Sullivan, James
- Daly, Sarah
- Bhaskar, Sanjeev
- Day, Ruth
- Anderson, Beverley
- Voss, Anne K.
- Thomas, Tim
- Biesecker, Leslie G.
- Smith, Philip
- Fryer, Alan
- Chandler, Kate E.
- Kerr, Bronwyn
- Tassabehji, May
- Lynch, Sally-Ann
- Krajewska-Walasek, Malgorzata
- McKee, Shane
- Smith, Janine
- Sweeney, Elizabeth
- Mansour, Sahar
- Mohammed, Shehla
- Donnai, Dian
- Black, Graeme
2011
Link zum Volltext
American journal of medical genetics. Part A, 2014-07, Vol.164A (7), p.1713-1733
- Keppler-Noreuil, Kim M.
- Sapp, Julie C.
- Lindhurst, Marjorie J.
- Parker, Victoria E.R.
- Blumhorst, Cathy
- Darling, Thomas
- Tosi, Laura L.
- Huson, Susan M.
- Whitehouse, Richard W.
- Jakkula, Eveliina
- Grant, Ian
- Balasubramanian, Meena
- Chandler, Kate E.
- Fraser, Jamie L.
- Gucev, Zoran
- Crow, Yanick J.
- Brennan, Leslie Manace
- Clark, Robin
- Sellars, Elizabeth A.
- Pena, Loren DM
- Krishnamurty, Vidya
- Shuen, Andrew
- Braverman, Nancy
- Cunningham, Michael L.
- Sutton, V. Reid
- Tasic, Velibor
- Graham Jr, John M.
- Geer Jr, Joseph
- Henderson, Alex
- Semple, Robert K.
- Biesecker, Leslie G.
2014
Link zum Volltext
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
- Ratbi, Ilham
- Falkenberg, Kim D.
- Sommen, Manou
- Al-Sheqaih, Nada
- Guaoua, Soukaina
- Vandeweyer, Geert
- Urquhart, Jill E.
- Chandler, Kate E.
- Williams, Simon G.
- Roberts, Neil A.
- El Alloussi, Mustapha
- Black, Graeme C.
- Ferdinandusse, Sacha
- Ramdi, Hind
- Heimler, Audrey
- Fryer, Alan
- Lynch, Sally-Ann
- Cooper, Nicola
- Ong, Kai Ren
- Smith, Claire E.L.
- Inglehearn, Christopher F.
- Mighell, Alan J.
- Elcock, Claire
- Poulter, James A.
- Tischkowitz, Marc
- Davies, Sally J.
- Sefiani, Abdelaziz
- Mironov, Aleksandr A.
- Newman, William G.
- Waterham, Hans R.
- Van Camp, Guy
2015
Link zum Volltext
Nature genetics, 2006-08, Vol.38 (8), p.910-916
- Bonthron, David T
- Goizet, Cyril
- Déry, Catherine
- Woods, C Geoffrey
- Ali, Manir
- Weschke, Bernhard
- Jackson, Andrew P
- Voit, Thomas
- King, Mary D
- Baumann, Clarisse
- Till, Marianne
- Quarrell, Oliver W
- Crow, Yanick J
- Cau, Daniel
- Lacombe, Didier
- Lyall, Hermione
- Lanzi, Giovanni
- Stephenson, John B P
- Griffith, Elen
- Garner, Anna
- Parmar, Rekha
- Lebon, Pierre
- McKeown, Carole
- Rogers, R Curtis
- Hayward, Bruce E
- Babul-Hirji, Riyana
- Bertini, Enrico
- Martínez-Frías, María Luisa
- Monier, Anne
- Leitch, Andrea
- Rittey, Christopher D
- Semple, Colin
- Aicardi, Jean
- Chitayat, David
- Tolmie, John L
- Ponting, Chris P
- Baxter, Peter
- Tacke, Uta
- Mathieu, Michèle
- Sanchis, Amparo
- Tomlin, Pam
- Oade, Yvette
- Klepper, Joerg
- Fazzi, Elisa
- Chandler, Kate E
2006
Link zum Volltext
American journal of human genetics, 2011-06, Vol.88 (6), p.767-777
- BURKITT WRIGHT, Emma M. M
- SPENCER, Helen L
- MADDEN, Colm
- DODDS, Annabel
- CHANDLER, Kate E
- BANKA, Siddharth
- AU, Leon
- CLAYTON-SMITH, Jill
- KHAN, Naz
- BIESECKER, Leslie G
- WILSON, Meredith
- ROHRBACH, Marianne
- DALY, Sarah B
- COLOMBI, Marina
- GIUNTA, Cecilia
- BLACK, Graeme C. M
- MANSON, Forbes D. C
- ZEEF, Leo A. H
- URQUHART, Jill
- ZOPPI, Nicoletta
- BONSHEK, Richard
- TOSOUNIDIS, Ioannis
- MOHAN, Meyyammai
2011
Link zum Volltext
American journal of medical genetics. Part A, 2017-11, Vol.173 (11), p.3003-3012
2017
Link zum Volltext
American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.170-175
2016
Link zum Volltext
Molecular genetics and metabolism, 2014-12, Vol.113 (4), p.301-306
- Banka, Siddharth
- de Goede, Christian
- Yue, Wyatt W.
- Morris, Andrew A.M.
- von Bremen, Beate
- Chandler, Kate E.
- Feichtinger, René G.
- Hart, Claire
- Khan, Nasaim
- Lunzer, Verena
- Mataković, Lavinija
- Marquardt, Thorsten
- Makowski, Christine
- Prokisch, Holger
- Debus, Otfried
- Nosaka, Kazuto
- Sonwalkar, Hemant
- Zimmermann, Franz A.
- Sperl, Wolfgang
- Mayr, Johannes A.
2014
Link zum Volltext
Lancet neurology, 2013-12, Vol.12 (12), p.1159-1169
- Rice, Gillian I, PhD
- Forte, Gabriella M A, MPhil
- Szynkiewicz, Marcin, MSc
- Chase, Diana S, PhD
- Aeby, Alec, MD
- Abdel-Hamid, Mohamed S, MSc
- Ackroyd, Sam, MB ChB
- Allcock, Rebecca, FRCPath
- Bailey, Kathryn M, MRCPCH
- Balottin, Umberto, MD
- Barnerias, Christine, MD
- Bernard, Genevieve, MD
- Bodemer, Christine, PhD
- Botella, Maria P, MD
- Cereda, Cristina, PhD
- Chandler, Kate E, MD
- Dabydeen, Lyvia, MRCPCH
- Dale, Russell C, PhD
- De Laet, Corinne, MD
- De Goede, Christian G E L, FRCPCH
- del Toro, Mireia, MD
- Effat, Laila, PhD
- Enamorado, Noemi Nunez, MD
- Fazzi, Elisa, MD
- Gener, Blanca, MD
- Haldre, Madli, BSc
- Lin, Jean-Pierre S-M, PhD
- Livingston, John H, MB ChB
- Lourenco, Charles Marques, MD
- Marques, Wilson, MD
- Oades, Patrick, FRCPCH
- Peterson, Pärt, PhD
- Rasmussen, Magnhild, MD
- Roubertie, Agathe, MD
- Schmidt, Johanna Loewenstein, CGC
- Shalev, Stavit A, MD
- Simon, Rogelio, MD
- Spiegel, Ronen, MD
- Swoboda, Kathryn J, FACMG
- Temtamy, Samia A, PhD
- Vassallo, Grace, MD
- Vilain, Catheline N, MD
- Vogt, Julie, MRCP
- Wermenbol, Vanessa, MD
- Whitehouse, William P, FRCPCH
- Soler, Doriette, MD
- Olivieri, Ivana, MD
- Orcesi, Simona, MD
- Aglan, Mona S, PhD
- Zaki, Maha S, PhD
- Abdel-Salam, Ghada M H, PhD
- Vanderver, Adeline, MD
- Kisand, Kai, PhD
- Rozenberg, Flore, MD
- Lebon, Pierre, MD
- Crow, Yanick J, Prof
2013
Link zum Volltext
British journal of dermatology (1951), 2023-01, Vol.188 (1), p.75-83
2023
Link zum Volltext
Journal of medical genetics, 2017-01, Vol.54 (1), p.64
2017
Link zum Volltext
American journal of human genetics, 2017-12, Vol.101 (6), p.1021-1033
- Cuvertino, Sara
- Stuart, Helen M.
- Chandler, Kate E.
- Roberts, Neil A.
- Armstrong, Ruth
- Bernardini, Laura
- Bhaskar, Sanjeev
- Callewaert, Bert
- Clayton-Smith, Jill
- Davalillo, Cristina Hernando
- Deshpande, Charu
- Devriendt, Koenraad
- Digilio, Maria C.
- Dixit, Abhijit
- Edwards, Matthew
- Friedman, Jan M.
- Gonzalez-Meneses, Antonio
- Joss, Shelagh
- Kerr, Bronwyn
- Lampe, Anne Katrin
- Langlois, Sylvie
- Lennon, Rachel
- Loget, Philippe
- Ma, David Y.T.
- McGowan, Ruth
- Des Medt, Maryse
- O’Sullivan, James
- Odent, Sylvie
- Parker, Michael J.
- Pebrel-Richard, Céline
- Petit, Florence
- Stark, Zornitza
- Stockler-Ipsiroglu, Sylvia
- Tinschert, Sigrid
- Vasudevan, Pradeep
- Villa, Olaya
- White, Susan M.
- Zahir, Farah R.
- Woolf, Adrian S.
- Banka, Siddharth
2017
Link zum Volltext
Journal of medical genetics, 2022-04, Vol.59 (4), p.393
- Molina-Ramírez, Leslie Patricia
- Kyle, Claire
- Ellingford, Jamie M
- Wright, Ronnie
- Taylor, Algy
- Bhaskar, Sanjeev S
- Campbell, Christopher
- Jackson, Harriet
- Fairclough, Adele
- Rousseau, Abigail
- Burghel, George J
- Dutton, Laura
- Banka, Siddharth
- Briggs, Tracy A
- Clayton-Smith, Jill
- Douzgou, Sofia
- Jones, Elizabeth A
- Kingston, Helen M
- Kerr, Bronwyn
- Ealing, John
- Somarathi, Suresh
- Chandler, Kate E
- Stuart, Helen M
- Burkitt-Wright, Emma Mm
- Newman, William G
- Bruce, Iain A
- Black, Graeme C
- Gokhale, David
2022
Link zum Volltext
Journal of medical genetics, 2018-02, Vol.55 (2), p.104
- Reijnders, Margot R F
- Janowski, Robert
- Alvi, Mohsan
- Self, Jay E
- van Essen, Ton J
- Vreeburg, Maaike
- Rouhl, Rob P W
- Stevens, Servi J C
- Stegmann, Alexander P A
- Schieving, Jolanda
- Pfundt, Rolph
- van Dijk, Katinke
- Smeets, Eric
- Stumpel, Connie T R M
- Bok, Levinus A
- Cobben, Jan Maarten
- Engelen, Marc
- Mansour, Sahar
- Whiteford, Margo
- Chandler, Kate E
- Douzgou, Sofia
- Cooper, Nicola S
- Tan, Ene-Choo
- Foo, Roger
- Lai, Angeline H M
- Rankin, Julia
- Green, Andrew
- Lönnqvist, Tuula
- Isohanni, Pirjo
- Williams, Shelley
- Ruhoy, Ilene
- Carvalho, Karen S
- Dowling, James J
- Lev, Dorit L
- Sterbova, Katalin
- Lassuthova, Petra
- Neupauerová, Jana
- Waugh, Jeff L
- Keros, Sotirios
- Clayton-Smith, Jill
- Smithson, Sarah F
- Brunner, Han G
- van Hoeckel, Ceciel
- Anderson, Mel
- Clowes, Virginia E
- Siu, Victoria Mok
- Ddd Study, The
- Selber, Paulo
- Leventer, Richard J
- Nellaker, Christoffer
- Niessing, Dierk
- Hunt, David
- Baralle, Diana
2018
Link zum Volltext
European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1377-1383
2021
Link zum Volltext
American journal of human genetics, 2007-10, Vol.81 (4), p.713-725
- Rice, Gillian
- Patrick, Teresa
- Parmar, Rekha
- Taylor, Claire F.
- Aeby, Alec
- Aicardi, Jean
- Artuch, Rafael
- Montalto, Simon Attard
- Bacino, Carlos A.
- Barroso, Bruno
- Benko, Willam S.
- Bergmann, Carsten
- Bertini, Enrico
- Blair, Edward M.
- Bonthron, David T.
- Briggs, Tracy
- Brueton, Louise A.
- Carr, Ian M.
- Carvalho, Daniel R.
- Chandler, Kate E.
- Christen, Hans-Jürgen
- Corry, Peter C.
- Cowan, Frances M.
- Cox, Helen
- D’Arrigo, Stefano
- Dean, John
- De Laet, Corinne
- De Praeter, Claudine
- Déry, Catherine
- Ferrie, Colin D.
- Flintoff, Kim
- Frints, Suzanna G.M.
- Garcia-Cazorla, Angels
- Gener, Blanca
- Goizet, Cyril
- Goutières, Françoise
- Green, Andrew J.
- Guët, Agnès
- Hamel, Ben C.J.
- Hayward, Bruce E.
- Heiberg, Arvid
- Husson, Marie
- Jackson, Andrew P.
- Jayatunga, Rasieka
- Jiang, Yong-Hui
- Kant, Sarina G.
- Kao, Amy
- King, Mary D.
- Kingston, Helen M.
- Klepper, Joerg
- Kotzot, Dieter
- Kratzer, Wilfried
- Lacombe, Didier
- Lagae, Lieven
- Leitch, Andrea
- Livingston, John H.
- Lourenco, Charles M.
- Lyall, E. G. Hermione
- Lynch, Sally A.
- Lyons, Michael J.
- Marom, Daphna
- McWilliam, Robert
- Melancon, Serge B.
- Moutard, Marie-Laure
- Nischal, Ken K.
- Østergaard, John R.
- Prendiville, Julie
- Rasmussen, Magnhild
- Rogers, R. Curtis
- Roland, Dominique
- Rostasy, Kevin
- Roubertie, Agathe
- Schiffmann, Raphael
- Scholl-Bürgi, Sabine
- Seal, Sunita
- Shalev, Stavit A.
- Corcoles, C. Sierra
- Sinha, Gyan P.
- Spiegel, Ronen
- Stephenson, John B.P.
- Tacke, Uta
- Tan, Tiong Yang
- Till, Marianne
- Tolmie, John L.
- Tomlin, Pam
- Vagnarelli, Federica
- Valente, Enza Maria
- Van Coster, Rudy N.A.
- Van der Aa, Nathalie
- Vanderver, Adeline
- Voit, Thomas
- Wassmer, Evangeline
- Weschke, Bernhard
- Whiteford, Margo L.
- Willemsen, Michel A.A.
- Zankl, Andreas
- Orcesi, Simona
- Fazzi, Elisa
- Lebon, Pierre
- Crow, Yanick J.
2007
Link zum Volltext
American journal of human genetics, 2011-08, Vol.89 (2), p.346-346
- Burkitt Wright, Emma M.M.
- Spencer, Helen L.
- Daly, Sarah B.
- Manson, Forbes D.C.
- Zeef, Leo A.H.
- Urquhart, Jill
- Zoppi, Nicoletta
- Bonshek, Richard
- Tosounidis, Ioannis
- Mohan, Meyyammai
- Madden, Colm
- Dodds, Annabel
- Chandler, Kate E.
- Banka, Siddharth
- Au, Leon
- Clayton-Smith, Jill
- Khan, Naz
- Biesecker, Leslie G.
- Wilson, Meredith
- Rohrbach, Marianne
- Colombi, Marina
- Giunta, Cecilia
- Black, Graeme C.M.
2011
Link zum Volltext
European journal of paediatric neurology, 2016-03, Vol.20 (2), p.286-295
2016
Link zum Volltext
Genetics in medicine, 2022-03, Vol.24 (3), p.631-644
- Fasham, James
- Lin, Siying
- Ghosh, Promita
- Radio, Francesca Clementina
- Farrow, Emily G.
- Thiffault, Isabelle
- Kussman, Jennifer
- Zhou, Dihong
- Hemming, Rick
- Zahka, Kenneth
- Chioza, Barry A.
- Rawlins, Lettie E.
- Wenger, Olivia K.
- Gunning, Adam C.
- Pizzi, Simone
- Onesimo, Roberta
- Zampino, Giuseppe
- Barker, Emily
- Osawa, Natasha
- Rodriguez, Megan Christine
- Neuhann, Teresa M.
- Zackai, Elaine H.
- Keena, Beth
- Capasso, Jenina
- Levin, Alex V.
- Bhoj, Elizabeth
- Li, Dong
- Hakonarson, Hakon
- Wentzensen, Ingrid M.
- Jackson, Adam
- Chandler, Kate E.
- Coban-Akdemir, Zeynep H.
- Posey, Jennifer E.
- Banka, Siddharth
- Lupski, James R.
- Sheppard, Sarah E.
- Tartaglia, Marco
- Triggs-Raine, Barbara
- Crosby, Andrew H.
- Baple, Emma L.
2022
Link zum Volltext
European journal of medical genetics, 2020-09, Vol.63 (9), p.103974-103974, Article 103974
2020
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The veterinary journal (1997), 2008-06, Vol.176 (3), p.310-319
2008
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American journal of medical genetics. Part A, 2015-03, Vol.167A (3), p.587-591
2015
Link zum Volltext
Brain communications, 2023, Vol.5 (5), p.fcad222-fcad222
- Accogli, Andrea
- Zaki, Maha S
- Al-Owain, Mohammed
- Otaif, Mansour Y
- Jackson, Adam
- Argilli, Emanuela
- Chandler, Kate E
- De Goede, Christian G E L
- Cora, Tülün
- Alvi, Javeria Raza
- Eslahi, Atieh
- Asl Mohajeri, Mahsa Sadat
- Ashtiani, Setareh
- Au, P Y Billie
- Scocchia, Alicia
- Alakurtti, Kirsi
- Pagnamenta, Alistair T
- Toosi, Mehran Beiraghi
- Karimiani, Ehsan Ghayoor
- Mojarrad, Majid
- Arab, Fatemeh
- Duymuş, Fahrettin
- Scantlebury, Morris H
- Yeşil, Gözde
- Rosenfeld, Jill Anne
- Türkyılmaz, Ayberk
- Sağer, Safiye Güneş
- Sultan, Tipu
- Ashrafzadeh, Farah
- Zahra, Tatheer
- Rahman, Fatima
- Maqbool, Shazia
- Abdel-Hamid, Mohamed S
- Issa, Mahmoud Y
- Efthymiou, Stephanie
- Bauer, Peter
- Zifarelli, Giovanni
- Salpietro, Vincenzo
- Al-Hassnan, Zuhair
- Banka, Siddharth
- Sherr, Elliot H
- Gleeson, Joseph G
- Striano, Pasquale
- Houlden, Henry
- Severino, Mariasavina
- Maroofian, Reza
2023
Link zum Volltext
Epilepsia (Copenhagen), 2010-08, Vol.51 (8), p.1533-1542
2010
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