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Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...Nature communications, 2021-02, Vol.12 (1), p.833-13, Article 833
- Faundes, Víctor
- Jennings, Martin D
- Crilly, Siobhan
- Legraie, Sarah
- Withers, Sarah E
- Cuvertino, Sara
- Davies, Sally J
- Douglas, Andrew G L
- Fry, Andrew E
- Harrison, Victoria
- Amiel, Jeanne
- Lehalle, Daphné
- Newman, William G
- Newkirk, Patricia
- Ranells, Judith
- Splitt, Miranda
- Cross, Laura A
- Saunders, Carol J
- Sullivan, Bonnie R
- Granadillo, Jorge L
- Gordon, Christopher T
- Kasher, Paul R
- Pavitt, Graham D
- Banka, Siddharth
2021
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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
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Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families
- Jain, Vani
- Foo, Seow Hoong
- Chooi, Stephen
- Moss, Celia
- Goodwin, Richard
- Berland, Siren
- Clarke, Angus J
- Davies, Sally J
- Corrin, Sian
- Murch, Oliver
- Doyle, Samantha
- Graham, Gail E
- Greenhalgh, Lynn
- Holder, Susan E
- Johnson, Diana
- Kumar, Ajith
- Ladda, Roger L
- Sell, Susan
- Begtrup, Amber
- Lynch, Sally A
- McCann, Emma
- Østern, Rune
- Pottinger, Caroline
- Splitt, Miranda
- Fry, Andrew E
2023
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American journal of human genetics, 2021-01, Vol.108 (1), p.176-185
- Fry, Andrew E.
- Marra, Christopher
- Derrick, Anna V.
- Pickrell, William O.
- Higgins, Adam T.
- te Water Naude, Johann
- McClatchey, Martin A.
- Davies, Sally J.
- Metcalfe, Kay A.
- Tan, Hui Jeen
- Mohanraj, Rajiv
- Avula, Shivaram
- Williams, Denise
- Brady, Lauren I.
- Mesterman, Ronit
- Tarnopolsky, Mark A.
- Zhang, Yuehua
- Yang, Ying
- Wang, Xiaodong
- Rees, Mark I.
- Goldfarb, Mitchell
- Chung, Seo-Kyung
2021
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BMC medical education, 2014-12, Vol.14 Suppl 1 (9036), p.S12-S12, Article S12
2014
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European journal of human genetics : EJHG, 2012-04, Vol.20 (4), p.381-388
- BANKA, Siddharth
- VEERAMACHANENI, Ratna
- METCALFE, Kay
- CHANDLER, Kate
- MAGEE, Alex
- STEWART, Fiona
- MCCONNELL, Vivienne Pm
- DONNELLY, Deirdre E
- BERLAND, Siren
- HOUGE, Gunnar
- MORTON, Jenny E
- OLEY, Christine
- REARDON, William
- REVENCU, Nicole
- PARK, Soo-Mi
- DAVIES, Sally J
- FRY, Andrew E
- ANN LYNCH, Sally
- GILL, Harinder
- SCHWEIGER, Susann
- LAM, Wayne Wk
- TOLMIE, John
- MOHAMMED, Shehla N
- HOWARD, Emma
- HOBSON, Emma
- SMITH, Audrey
- BLYTH, Moira
- BENNETT, Christopher
- VASUDEVAN, Pradeep C
- GARCIA-MINAUR, Sixto
- HENDERSON, Alex
- GOODSHIP, Judith
- WRIGHT, Michael J
- FISHER, Richard
- BUNSTONE, Sancha
- GIBBONS, Richard
- PRICE, Susan M
- DE SILVA, Deepthi C
- KAREN TEMPLE, I
- COLLINS, Amanda L
- LACHLAN, Katherine
- ELMSLIE, Frances
- MCENTAGART, Meriel
- CASTLE, Bruce
- CLAYTON-SMITH, Jill
- RAGGE, Nicola
- BLACK, Graeme C
- DONNAI, Dian
- PARKER, Michael J
- CROW, Yanick J
- KERR, Bronwyn
- KINGSTON, Helen
2012
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Human mutation, 2016-04, Vol.37 (4), p.354-358
- Isidor, Bertrand
- Küry, Sébastien
- Rosenfeld, Jill A.
- Besnard, Thomas
- Schmitt, Sébastien
- Joss, Shelagh
- Davies, Sally J
- Roger Lebel, Robert
- Henderson, Alex
- Schaaf, Christian P.
- Streff, Haley E.
- Yang, Yaping
- Jain, Vani
- Chida, Nodoka
- Latypova, Xenia
- Caignec, Cédric Le
- Cogné, Benjamin
- Mercier, Sandra
- Vincent, Marie
- Colin, Estelle
- Bonneau, Dominique
- Denommé, Anne-Sophie
- Parent, Philippe
- Gilbert-Dussardier, Brigitte
- Odent, Sylvie
- Toutain, Annick
- Piton, Amélie
- Dina, Christian
- Donnart, Audrey
- Lindenbaum, Pierre
- Charpentier, Eric
- Redon, Richard
- Iemura, Kenji
- Ikeda, Masanori
- Tanaka, Kozo
- Bézieau, Stéphane
2016
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Journal of dental education, 2021-07, Vol.85 (7), p.1210-1216
2021
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Human Genetics, 2009-06, Vol.125 (5-6), p.657-657
2009
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European journal of human genetics : EJHG, 2006-02, Vol.14 (2), p.151-158
2006
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Human mutation, 2003-04, Vol.21 (4), p.424-440
- Millar, David S.
- Lewis, Mark D.
- Horan, Martin
- Newsway, Vicky
- Easter, Tammy E.
- Gregory, John W.
- Fryklund, Linda
- Norin, Martin
- Crowne, Elizabeth C.
- Davies, Sally J.
- Edwards, Phillip
- Kirk, Jeremy
- Waldron, Kim
- Smith, Patricia J.
- Phillips III, John A.
- Scanlon, Maurice F.
- Krawczak, Michael
- Cooper, David N.
- Procter, Annie M.
2003
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American journal of human genetics, 2018-01, Vol.102 (1), p.175-187
- Faundes, Víctor
- Demos, Michelle K.
- Goldman, Amy
- Lehman, Anna
- McKee, Shane
- Morton, Jenny
- Rankin, Julia
- Temple, I. Karen
- Adam, Shelin
- van Karnebeek, Clara
- Aitken, Stuart
- Alvi, Mohsan
- Ambridge, Kirsty
- Jones, Philip
- Jones, Wendy D.
- Mason, Laura E.
- Tivey, Adrian R.
- Ahmed, Munaza
- Balasubramanian, Meena
- Barnicoat, Angela
- Bitner-Glindzicz, Maria
- Bourdon, Louise
- Bradley, Lisa
- Burn, John
- Colgiu, Irina
- Collins, Amanda
- Collinson, Morag N.
- Connell, Fiona
- Crow, Yanick
- Dabir, Tabib
- Davidson, Rosemarie
- de Vries, Dylan
- Deshpande, Charu
- Dixit, Abhijit
- Dobbie, Angus
- Douzgou, Sofia
- Duncan, Alexis
- Eason, Jacqueline
- Ellard, Sian
- Elmslie, Frances
- Evans, Karenza
- Everest, Sarah
- Flinter, Frances
- Foulds, Nicola
- Ghali, Neeti
- Gibbons, Richard
- Gill, Harinder
- Greene, Philip
- Gribble, Susan
- Holder, Muriel
- Hollingsworth, Georgina
- Ingram, Stuart
- Jenkins, Lucy
- Joss, Shelagh
- Kerr, Bronwyn
- Kini, Usha
- Kraus, Alison
- Lachlan, Katherine
- Marks, Karen
- McConnell, Vivienne
- McEntagart, Meriel
- McGowan, Ruth
- Middleton, Anna
- Mohammed, Shehla
- O’Shea, Rosie
- Ogilvie, Caroline
- Ong, Kai-Ren
- Parker, Michael J.
- Patel, Chirag
- Paterson, Joan
- Payne, Stewart
- Prescott, Katrina
- Procter, Annie
- Purnell, Hellen
- Randall, Josh
- Raymond, Lucy
- Rice, Debbie
- Robert, Leema
- Samant, Shalaka
- Selby, Ann
- Sequeira, Cheryl
- Shears, Debbie
- Smith, Audrey
- Smith, Kath
- Splitt, Miranda
- Squires, Miranda
- Tomkins, Susan
- Treacy, Becky
- Tysoe, Carolyn
- Vasudevan, Pradeep
- Vijayarangakannan, Parthiban
- Vogt, Julie
- Wakeling, Emma
- Whiteford, Margo
- Wilcox, Sarah
- Wilkinson, Emily
- Firth, Helen V.
- Wright, Caroline F.
- FitzPatrick, David R.
2018
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Clinical dysmorphology, 2009-10, Vol.18 (4), p.215-217
2009
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The foundation years, 2008-04, Vol.4 (2), p.81-82
2008
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Journal of medical genetics, 1995-01, Vol.32 (1), p.1-6
1995
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Human Genetics, 2009, Vol.125 (5-6), p.657
2009
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Cochrane database of systematic reviews, 2014-04, Vol.2014 (4), p.CD003331
2014
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Plant, cell and environment, 2010-04, Vol.33 (4), p.510-525
2010
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Philosophical transactions of the Royal Society of London. Series B. Biological sciences, 2015-06, Vol.370 (1670), p.20140082
2015
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Cochrane database of systematic reviews, 2019-01, Vol.1 (1), p.CD003331-CD003331
2019
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Journal of antimicrobial chemotherapy, 2014-11, Vol.69 (11), p.2883-2885
2014
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British journal of general practice, 2014-12, Vol.64 (629), p.604-605
2014
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Cochrane database of systematic reviews, 2010-04 (4), p.CD003331
2010
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Plant, cell and environment, 2009-08, Vol.32 (8), p.949-959
2009
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Journal of experimental botany, 2012-05, Vol.63 (9), p.3499-3509
2012
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