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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...European journal of human genetics : EJHG, 2018-01, Vol.26 (1), p.64-74
- Moortgat, Stéphanie
- Berland, Siren
- Aukrust, Ingvild
- Maystadt, Isabelle
- Baker, Laura
- Benoit, Valerie
- Caro-Llopis, Alfonso
- Cooper, Nicola S
- Debray, François-Guillaume
- Faivre, Laurence
- Gardeitchik, Thatjana
- Haukanes, Bjørn I
- Houge, Gunnar
- Kivuva, Emma
- Martinez, Francisco
- Mehta, Sarju G
- Nassogne, Marie-Cécile
- Powell-Hamilton, Nina
- Pfundt, Rolph
- Rosello, Monica
- Prescott, Trine
- Vasudevan, Pradeep
- van Loon, Barbara
- Verellen-Dumoulin, Christine
- Verloes, Alain
- Lippe, Charlotte von der
- Wakeling, Emma
- Wilkie, Andrew O M
- Wilson, Louise
- Yuen, Amy
- Study, Ddd
- Low, Karen J
- Newbury-Ecob, Ruth A
2018
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BMC medicine, 2024-04, Vol.22 (1), p.158-24, Article 158
2024
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BMC medicine, 2024-07, Vol.22 (1), p.292-1, Article 292
2024
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Journal of inherited metabolic disease, 2023-03, Vol.46 (2), p.313-325
- Post, Merel A.
- Wit, Isis
- Zijlstra, Fokje S. M.
- Engelke, Udo F. H.
- Rooij, Arno
- Christodoulou, John
- Tan, Tiong Yang
- Le Fevre, Anna
- Jin, Danqun
- Yaplito‐Lee, Joy
- Lee, Beom Hee
- Low, Karen J.
- Mallick, Andrew A.
- Õunap, Katrin
- Pitt, James
- Reardon, William
- Vals, Mari‐Anne
- Wortmann, Saskia B.
- Wessels, Hans J. C. T.
- Bärenfänger, Melissa
- Karnebeek, Clara D. M.
- Lefeber, Dirk J.
2023
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European journal of human genetics : EJHG, 2017-05, Vol.25 (5), p.552-559
- Low, Karen J
- Ansari, Morad
- Abou Jamra, Rami
- Clarke, Angus
- El Chehadeh, Salima
- FitzPatrick, David R
- Greenslade, Mark
- Henderson, Alex
- Hurst, Jane
- Keller, Kory
- Kuentz, Paul
- Prescott, Trine
- Roessler, Franziska
- Selmer, Kaja K
- Schneider, Michael C
- Stewart, Fiona
- Tatton-Brown, Katrina
- Thevenon, Julien
- Vigeland, Magnus D
- Vogt, Julie
- Willems, Marjolaine
- Zonana, Jonathan
- Study, D D D
- Smithson, Sarah F
2017
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Epilepsia open, 2023-12, Vol.8 (4), p.1300-1313
- Buijsse, Nathan
- Jansen, Floor E
- Ockeloen, Charlotte W
- van Kempen, Marjan J A
- Zeidler, Shimriet
- Willemsen, Marjolein H
- Scarano, Emanuela
- Monticone, Sonia
- Zonneveld-Huijssoon, Evelien
- Low, Karen J
- Bayat, Allan
- Sisodiya, Sanjay M
- Samanta, Debopam
- Lesca, Gaetan
- de Jong, Danielle
- Giltay, Jaqcues C
- Verbeek, Nienke E
- Kleefstra, Tjitske
- Brilstra, Eva H
- Vlaskamp, Danique R M
2023
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Developmental medicine and child neurology, 2024-06
2024
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American journal of human genetics, 2019-05, Vol.104 (5), p.957-967
- Van Esch, Hilde
- Colnaghi, Rita
- Freson, Kathleen
- Starokadomskyy, Petro
- Zankl, Andreas
- Backx, Liesbeth
- Abramowicz, Iga
- Outwin, Emily
- Rohena, Luis
- Faulkner, Claire
- Leong, Gary M.
- Newbury-Ecob, Ruth A.
- Challis, Rachel C.
- Õunap, Katrin
- Jaeken, Jacques
- Seuntjens, Eve
- Devriendt, Koen
- Burstein, Ezra
- Low, Karen J.
- O’Driscoll, Mark
2019
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American journal of human genetics, 2021-09, Vol.108 (9), p.1692-1709
- Stolz, Jacob R.
- Foote, Kendall M.
- Veenstra-Knol, Hermine E.
- Pfundt, Rolph
- ten Broeke, Sanne W.
- de Leeuw, Nicole
- Roht, Laura
- Pajusalu, Sander
- Part, Reelika
- Rebane, Ionella
- Õunap, Katrin
- Stark, Zornitza
- Kirk, Edwin P.
- Lawson, John A.
- Lunke, Sebastian
- Christodoulou, John
- Louie, Raymond J.
- Rogers, R. Curtis
- Davis, Jessica M.
- Innes, A. Micheil
- Wei, Xing-Chang
- Keren, Boris
- Mignot, Cyril
- Lebel, Robert Roger
- Sperber, Steven M.
- Sakonju, Ai
- Dosa, Nienke
- Barge-Schaapveld, Daniela Q.C.M.
- Peeters-Scholte, Cacha M.P.C.D.
- Ruivenkamp, Claudia A.L.
- van Bon, Bregje W.
- Kennedy, Joanna
- Low, Karen J.
- Ellard, Sian
- Pang, Lewis
- Junewick, Joseph J.
- Mark, Paul R.
- Carvill, Gemma L.
- Swanson, Geoffrey T.
2021
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Genetics in medicine, 2022-10, Vol.24 (10), p.2051-2064
- de Boer, Elke
- Ockeloen, Charlotte W.
- Kampen, Rosalie A.
- Hampstead, Juliet E.
- Dingemans, Alexander J.M.
- Rots, Dmitrijs
- Lütje, Lukas
- Ashraf, Tazeen
- Baker, Rachel
- Barat-Houari, Mouna
- Angle, Brad
- Chatron, Nicolas
- Denommé-Pichon, Anne-Sophie
- Devinsky, Orrin
- Dubourg, Christèle
- Elmslie, Frances
- Elloumi, Houda Zghal
- Faivre, Laurence
- Fitzgerald-Butt, Sarah
- Geneviève, David
- Goos, Jacqueline A.C.
- Helm, Benjamin M.
- Kini, Usha
- Lasa-Aranzasti, Amaia
- Lesca, Gaetan
- Lynch, Sally A.
- Mathijssen, Irene M.J.
- McGowan, Ruth
- Monaghan, Kristin G.
- Odent, Sylvie
- Pfundt, Rolph
- Putoux, Audrey
- van Reeuwijk, Jeroen
- Santen, Gijs W.E.
- Sasaki, Erina
- Sorlin, Arthur
- van der Spek, Peter J.
- Stegmann, Alexander P.A.
- Swagemakers, Sigrid M.A.
- Valenzuela, Irene
- Viora-Dupont, Eléonore
- Vitobello, Antonio
- Ware, Stephanie M.
- Wéber, Mathys
- Gilissen, Christian
- Low, Karen J.
- Fisher, Simon E.
- Vissers, Lisenka E.L.M.
- Wong, Maggie M.K.
- Kleefstra, Tjitske
2022
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European journal of human genetics : EJHG, 2024-10
- Peron, Angela
- D'Arco, Felice
- Aldinger, Kimberly A
- Smith-Hicks, Constance
- Zweier, Christiane
- Gradek, Gyri A
- Bradbury, Kimberley
- Accogli, Andrea
- Andersen, Erica F
- Au, Ping Yee Billie
- Battini, Roberta
- Beleford, Daniah
- Bird, Lynne M
- Bouman, Arjan
- Bruel, Ange-Line
- Busk, Øyvind Løvold
- Campeau, Philippe M
- Capra, Valeria
- Carlston, Colleen
- Carmichael, Jenny
- Chassevent, Anna
- Clayton-Smith, Jill
- Bamshad, Michael J
- Earl, Dawn L
- Faivre, Laurence
- Philippe, Christophe
- Ferreira, Patrick
- Graul-Neumann, Luitgard
- Green, Mary J
- Haffner, Darrah
- Haldipur, Parthiv
- Hanna, Suhair
- Houge, Gunnar
- Jones, Wendy D
- Kraus, Cornelia
- Kristiansen, Birgit Elisabeth
- Lespinasse, James
- Low, Karen J
- Lynch, Sally Ann
- Maia, Sofia
- Mao, Rong
- Kalinauskiene, Ruta
- Melver, Catherine
- McDonald, Kimberly
- Montgomery, Tara
- Morleo, Manuela
- Motter, Constance
- Openshaw, Amanda S
- Palumbos, Janice Cox
- Parikh, Aditi Shah
- Perilla-Young, Yezmin
- Powell, Cynthia M
- Person, Richard
- Desai, Megha
- Piard, Juliette
- Pfundt, Rolph
- Scala, Marcello
- Serey-Gaut, Margaux
- Shears, Deborah
- Slavotinek, Anne
- Suri, Mohnish
- Turner, Claire
- Tvrdik, Tatiana
- Weiss, Karin
- Wentzensen, Ingrid M
- Zollino, Marcella
- Hsieh, Tzung-Chien
- de Vries, Bert B A
- Guillemot, Francois
- Dobyns, William B
- Viskochil, David
- Dias, Cristina
2024
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American journal of medical genetics. Part A, 2023-10, Vol.191 (10), p.2610-2622
2023
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Genetics in medicine, 2023-11, Vol.25 (11), p.100962-100962, Article 100962
- de Boer, Elke
- Ockeloen, Charlotte W.
- Kampen, Rosalie A.
- Hampstead, Juliet E.
- Dingemans, Alexander J.M.
- Rots, Dmitrijs
- Lütje, Lukas
- Ashraf, Tazeen
- Baker, Rachel
- Barat-Houari, Mouna
- Angle, Brad
- Chatron, Nicolas
- Denommé-Pichon, Anne-Sophie
- Devinsky, Orrin
- Dubourg, Christèle
- Elmslie, Frances
- Elloumi, Houda Zghal
- Faivre, Laurence
- Fitzgerald-Butt, Sarah
- Geneviève, David
- Goos, Jacqueline A.C.
- Helm, Benjamin M.
- Kini, Usha
- Lasa-Aranzasti, Amaia
- Lesca, Gaetan
- Lynch, Sally A.
- Mathijssen, Irene M.J.
- McGowan, Ruth
- Monaghan, Kristin G.
- Odent, Sylvie
- Pfundt, Rolph
- Putoux, Audrey
- van Reeuwijk, Jeroen
- Santen, Gijs W.E.
- Sasaki, Erina
- Sorlin, Arthur
- van der Spek, Peter J.
- Stegmann, Alexander P.A.
- Swagemakers, Sigrid M.A.
- Valenzuela, Irene
- Viora-Dupont, Eléonore
- Vitobello, Antonio
- Ware, Stephanie M.
- Wéber, Mathys
- Gilissen, Christian
- Low, Karen J.
- Fisher, Simon E.
- Vissers, Lisenka E.L.M.
- Wong, Maggie M.K.
- Kleefstra, Tjitske
2023
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Journal of inherited metabolic disease, 2023-03, Vol.46 (2), p.313-325
- Post, Merel A
- de Wit, Isis
- Zijlstra, Fokje S M
- Engelke, Udo F H
- van Rooij, Arno
- Christodoulou, John
- Tan, Tiong Yang
- Le Fevre, Anna
- Jin, Danqun
- Yaplito-Lee, Joy
- Lee, Beom Hee
- Low, Karen J
- Mallick, Andrew A
- Õunap, Katrin
- Pitt, James
- Reardon, William
- Vals, Mari-Anne
- Wortmann, Saskia B
- Wessels, Hans J C T
- Bärenfänger, Melissa
- van Karnebeek, Clara D M
- Lefeber, Dirk J
2023
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European journal of medical genetics, 2019-02, Vol.62 (2), p.97-102
2019
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American journal of human genetics, 2021-11, Vol.108 (11), p.2206-2206
- Stolz, Jacob R.
- Foote, Kendall M.
- Veenstra-Knol, Hermine E.
- Pfundt, Rolph
- ten Broeke, Sanne W.
- de Leeuw, Nicole
- Roht, Laura
- Pajusalu, Sander
- Part, Reelika
- Rebane, Ionella
- Õunap, Katrin
- Stark, Zornitza
- Kirk, Edwin P.
- Lawson, John A.
- Lunke, Sebastian
- Christodoulou, John
- Louie, Raymond J.
- Rogers, R. Curtis
- Davis, Jessica M.
- Innes, A. Micheil
- Wei, Xing-Chang
- Keren, Boris
- Mignot, Cyril
- Lebel, Robert Roger
- Sperber, Steven M.
- Sakonju, Ai
- Dosa, Nienke
- Barge-Schaapveld, Daniela Q.C.M.
- Peeters-Scholte, Cacha M.P.C.D.
- Ruivenkamp, Claudia A.L.
- van Bon, Bregje W.
- Kennedy, Joanna
- Low, Karen J.
- Ellard, Sian
- Pang, Lewis
- Junewick, Joseph J.
- Mark, Paul R.
- Carvill, Gemma L.
- Swanson, Geoffrey T.
2021
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American journal of medical genetics. Part A, 2017-10, Vol.173 (10), p.2844-2846
2017
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Seizure (London, England), 2018-03, Vol.56, p.1-3
2018
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Clinical dysmorphology, 2015-07, Vol.24 (3), p.113-114
2015
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Clinical dysmorphology, 2017-04, Vol.26 (2), p.107-109
2017
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Clinical dysmorphology, 2012-07, Vol.21 (3), p.141-143
2012
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Clinical genetics, 2021-08, Vol.100 (2), p.227-233
2021
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Npj genomic medicine, 2024-03, Vol.9 (1), p.22-22, Article 22
- Meester, Josephina A. N.
- Hebert, Anne
- Bastiaansen, Maaike
- Rabaut, Laura
- Bastianen, Jarl
- Boeckx, Nele
- Ashcroft, Kathryn
- Atwal, Paldeep S.
- Benichou, Antoine
- Billon, Clarisse
- Blankensteijn, Jan D.
- Brennan, Paul
- Bucks, Stephanie A.
- Campbell, Ian M.
- Conrad, Solène
- Curtis, Stephanie L.
- Dasouki, Majed
- Dent, Carolyn L.
- Eden, James
- Goel, Himanshu
- Hartill, Verity
- Houweling, Arjan C.
- Isidor, Bertrand
- Jackson, Nicola
- Koopman, Pieter
- Korpioja, Anita
- Kraatari-Tiri, Minna
- Kuulavainen, Liina
- Lee, Kelvin
- Low, Karen J.
- Lu, Alan C.
- McManus, Morgan L.
- Oakley, Stephen P.
- Oliver, James
- Organ, Nicole M.
- Overwater, Eline
- Revencu, Nicole
- Trainer, Alison H.
- Trivedi, Bhavya
- Turner, Claire L. S.
- Whittington, Rebecca
- Zankl, Andreas
- Zentner, Dominica
- Van Laer, Lut
- Verstraeten, Aline
- Loeys, Bart L.
2024
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Journal of inherited metabolic disease, 2023-03, Vol.46 (2), p.313-325
- Post, Merel A
- de Wit, Isis
- Zijlstra, Fokje S M
- Engelke, Udo F H
- van Rooij, Arno
- Christodoulou, John
- Tan, Tiong Yang
- Le Fevre, Anna
- Jin, Danqun
- Yaplito-Lee, Joy
- Lee, Beom Hee
- Low, Karen J
- Mallick, Andrew A
- Õunap, Katrin
- Pitt, James
- Reardon, William
- Vals, Mari-Anne
- Wortmann, Saskia B
- Wessels, Hans J C T
- Bärenfänger, Melissa
- van Karnebeek, Clara D M
- Lefeber, Dirk J
2023
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Genetics in Medicine Open, 2024-10, p.101864, Article 101864
- Copeland, Harriet
- Low, Karen J.
- Wynn, Sarah L.
- Ahmed, Ayesha
- Arthur, Victoria
- Balasubramanian, Meena
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- Bryson, Lisa
- Bucknall, Catrin
- Campbell, Jamie
- Chandler, Kate
- Chauhan, Jaynee
- Clarkson, Amy
- Coles, Rachel
- Conti, Hector
- Costello, Philandra
- Coupar, Tessa
- Craig, Amy
- Dean, John
- Dillon, Amy
- Dixit, Abhijit
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- Forzano, Francesca
- Foulds, Nicola
- Gardham, Alice
- Ghali, Neeti
- Green, Andrew
- Hanna, William
- Harrison, Rachel
- Hegarty, Mairead
- Higgs, Jenny
- Holder, Muriel
- Irving, Rachel
- Jain, Vani
- Johnson, Katie
- Jolley, Rachel
- Jones, Wendy D.
- Jones, Gabriela
- Joss, Shelagh
- Kalinauskiene, Ruta
- Kanani, Farah
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- Khan, Mahmudur
- Khan, Naz
- Kivuva, Emma
- Lahiri, Nayana
- Lakhani, Neeta
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- Newbury-Ecob, Ruth
- Osborne, Fiona
- Parker, Michael J.
- Patterson, Jenny
- Pottinger, Caroline
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- Prescott, Katrina
- Quinn, Shauna
- Radley, Jessica A.
- Robart, Sarah
- Ross, Alison
- Rosti, Giulia
- Sansbury, Francis H.
- Sarkar, Ajoy
- Searle, Claire
- Shannon, Nora
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- Stewart, Helen
- Suri, Mohnish
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2024
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