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The Journal of molecular diagnostics : JMD, 2019-01, Vol.21 (1), p.38-48
- Baker, Samuel W.
- Murrell, Jill R.
- Nesbitt, Addie I.
- Pechter, Kieran B.
- Balciuniene, Jorune
- Zhao, Xiaonan
- Yu, Zhenming
- Denenberg, Elizabeth H.
- DeChene, Elizabeth T.
- Wilkens, Alisha B.
- Bhoj, Elizabeth J.
- Guan, Qiaoning
- Dulik, Matthew C.
- Conlin, Laura K.
- Abou Tayoun, Ahmad N.
- Luo, Minjie
- Wu, Chao
- Cao, Kajia
- Sarmady, Mahdi
- Bedoukian, Emma C.
- Tarpinian, Jennifer
- Medne, Livija
- Skraban, Cara M.
- Deardorff, Matthew A.
- Krantz, Ian D.
- Krock, Bryan L.
- Santani, Avni B.
2019
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PloS one, 2014-08, Vol.9 (8), p.e104661-e104661
2014
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Blood, 2015-05, Vol.125 (21), p.3263-3272
2015
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Nature immunology, 2013-06, Vol.14 (6), p.611
2013
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European journal of human genetics : EJHG, 2019-04, Vol.27 (4), p.612-620
2019
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Genes & cancer, 2011-12, Vol.2 (12), p.1117-1133
2011
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Proceedings of the National Academy of Sciences - PNAS, 2007-03, Vol.104 (11), p.4600-4605
2007
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Genetics in medicine, 2020-03, Vol.22 (3), p.453-461
2020
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Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia
2015
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Human mutation, 2019-12, Vol.40 (12), p.2197-2220
2019
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The Journal of clinical investigation, 2012-04, Vol.122 (4), p.1427-1443
2012
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The Journal of clinical investigation, 2024-04, Vol.134 (8)
2024
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Journal of cell science, 2008-06, Vol.121 (11), p.1907-1915
2008
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The Journal of immunology (1950), 2014-02, Vol.192 (4), p.1661-1670
2014
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Investigative ophthalmology & visual science, 2009-11, Vol.50 (11), p.5463-5471
2009
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American journal of medical genetics. Part A, 2016-03, Vol.170A (3), p.699-702
2016
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Carcinogenesis (New York), 2014-05, Vol.35 (5), p.1067-1077
2014
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The Journal of molecular diagnostics : JMD, 2022-03, Vol.24 (3), p.274-286
- Murrell, Jill R
- Nesbitt, Addie May I
- Baker, Samuel W
- Pechter, Kieran B
- Balciuniene, Jorune
- Zhao, Xiaonan
- Denenberg, Elizabeth H
- DeChene, Elizabeth T
- Wu, Chao
- Jayaraman, Pushkala
- Cao, Kajia
- Gonzalez, Michael
- Devoto, Marcella
- Testori, Alessandro
- Monos, John D
- Dulik, Matthew C
- Conlin, Laura K
- Luo, Minjie
- McDonald Gibson, Kristin
- Guan, Qiaoning
- Sarmady, Mahdi
- Bhoj, Elizabeth
- Helbig, Ingo
- Zackai, Elaine H
- Bedoukian, Emma C
- Wilkens, Alisha
- Tarpinian, Jennifer
- Izumi, Kosuke
- Skraban, Cara M
- Deardorff, Matthew A
- Medne, Livija
- Krantz, Ian D
- Krock, Bryan L
- Santani, Avni B
2022
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American journal of medical genetics. Part A, 2014-11, Vol.164A (11), p.2701-2706
2014
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Advances in Molecular Pathology, 2018-11, Vol.1 (1), p.81-89
2018
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American journal of human genetics, 2018-05, Vol.102 (5), p.995-1007
- Olson, Heather E.
- Jean-Marçais, Nolwenn
- Yang, Edward
- Heron, Delphine
- Tatton-Brown, Katrina
- van der Zwaag, Paul A.
- Bijlsma, Emilia K.
- Krock, Bryan L.
- Backer, E.
- Kamsteeg, Erik-Jan
- Sinnema, Margje
- Reijnders, Margot R.F.
- Bearden, David
- Begtrup, Amber
- Telegrafi, Aida
- Lunsing, Roelineke J.
- Burglen, Lydie
- Lesca, Gaetan
- Cho, Megan T.
- Smith, Lacey A.
- Sheidley, Beth R.
- Moufawad El Achkar, Christelle
- Pearl, Phillip L.
- Poduri, Annapurna
- Skraban, Cara M.
- Tarpinian, Jennifer
- Nesbitt, Addie I.
- Fransen van de Putte, Dietje E.
- Ruivenkamp, Claudia A.L.
- Rump, Patrick
- Chatron, Nicolas
- Sabatier, Isabelle
- De Bellescize, Julitta
- Guibaud, Laurent
- Sweetser, David A.
- Waxler, Jessica L.
- Wierenga, Klaas J.
- Donadieu, Jean
- Narayanan, Vinodh
- Ramsey, Keri M.
- Nava, Caroline
- Rivière, Jean-Baptiste
- Vitobello, Antonio
- Tran Mau-Them, Frédéric
- Philippe, Christophe
- Bruel, Ange-Line
- Duffourd, Yannis
- Thomas, Laurel
- Lelieveld, Stefan H.
- Schuurs-Hoeijmakers, Janneke
- Brunner, Han G.
- Keren, Boris
- Thevenon, Julien
- Faivre, Laurence
- Thomas, Gary
- Thauvin-Robinet, Christel
2018
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Genetics in medicine, 2020-03, Vol.22 (3), p.453-461
2020
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Human mutation, 2019-12, Vol.40 (12), p.iii-iii
2019
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American journal of human genetics, 2020-06, Vol.106 (6), p.830-845
- Tolchin, Dara
- Yeager, Jessica P.
- Prasad, Priya
- Dorrani, Naghmeh
- Russi, Alvaro Serrano
- Martinez-Agosto, Julian A.
- Haseeb, Abdul
- Santen, G.W.E.
- Ruivenkamp, Claudia
- Mercimek-Andrews, Saadet
- Depienne, Christel
- Kuechler, Alma
- Mikat, Barbara
- Ludecke, Hermann-Josef
- Bilan, Frederic
- Le Guyader, Gwenael
- Gilbert-Dussardier, Brigitte
- Keren, Boris
- Heide, Solveig
- Haye, Damien
- Van Esch, Hilde
- Keldermans, Liesbeth
- Lancaster, Emily
- Krantz, Ian D.
- Krock, Bryan L.
- DeChene, Elizabeth T.
- Melistaccio, Giada
- Suri, Mohnish
- Foulds, Nicola
- Bleda, M.
- Boardman-Pretty, F.
- Boissiere, J.M.
- Boustred, C.R.
- Caulfield, M.J.
- Chan, G.C.
- Craig, C.E.H.
- Daugherty, L.C.
- Devereau, A.
- Elgar, G.
- Foulger, R.E.
- Fowler, T.
- Furió-Tarí, P.
- Hackett, J.M.
- Halai, D.
- Holman, J.E.
- Hubbard, T.J.P.
- Lahnstein, L.
- Lawson, K.
- Leigh, S.E.A.
- Leong, I.U.S.
- Maleady-Crowe, F.
- Mason, J.
- McDonagh, E.M.
- Need, A.C.
- Odhams, C.A.
- Perez-Gil, D.
- Polychronopoulos, D.
- Pullinger, J.
- Rahim, T.
- Rendon, A.
- Rogers, T.
- Ryten, M.
- Savage, K.
- Scott, R.H.
- Siddiq, A.
- Sieghart, A.
- Smedley, D.
- Smith, K.R.
- Sosinsky, A.
- Spooner, W.
- Stevens, H.E.
- Stuckey, A.
- Thomas, E.R.A.
- Thompson, S.R.
- Tregidgo, C.
- Tucci, A.
- Walsh, E.
- Welland, M.J.
- Williams, E.
- Witkowska, K.
- Wood, S.M.
- Zarowiecki, M.
- Begtrup, Amber
- Henderson, Lindsay B.
- Forster, Cara
- Reed, Patrick
- McDonald, Marie T.
- McConkie-Rosell, Allyn
- Thevenon, Julien
- Le Tanno, Pauline
- Coutton, Charles
- Stewart, Sarah
- Maver, Ales
- Gorazd, Rudolf
- Pichon, Olivier
- Nizon, Mathilde
- Cogné, Benjamin
- Isidor, Bertrand
- Stoeva, Radka
- Le Caignec, Cédric
2020
Link zum Volltext
The Journal of molecular diagnostics : JMD, 2022-03, Vol.24 (3), p.274-286
- Murrell, Jill R.
- Nesbitt, Addie May I.
- Baker, Samuel W.
- Pechter, Kieran B.
- Balciuniene, Jorune
- Zhao, Xiaonan
- Denenberg, Elizabeth H.
- DeChene, Elizabeth T.
- Wu, Chao
- Jayaraman, Pushkala
- Cao, Kajia
- Gonzalez, Michael
- Devoto, Marcella
- Testori, Alessandro
- Monos, John D.
- Dulik, Matthew C.
- Conlin, Laura K.
- Luo, Minjie
- McDonald Gibson, Kristin
- Guan, Qiaoning
- Sarmady, Mahdi
- Bhoj, Elizabeth
- Helbig, Ingo
- Zackai, Elaine H.
- Bedoukian, Emma C.
- Wilkens, Alisha
- Tarpinian, Jennifer
- Izumi, Kosuke
- Skraban, Cara M.
- Deardorff, Matthew A.
- Medne, Livija
- Krantz, Ian D.
- Krock, Bryan L.
- Santani, Avni B.
2022
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