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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...Calcified tissue international, 2023-05, Vol.112 (5), p.621-627
2023
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The journal of clinical endocrinology and metabolism, 2012-04, Vol.97 (4), p.E694-E699
- Raivio, Taneli
- Avbelj, Magdalena
- McCabe, Mark J
- Romero, Christopher J
- Dwyer, Andrew A
- Tommiska, Johanna
- Sykiotis, Gerasimos P
- Gregory, Louise C
- Diaczok, Daniel
- Tziaferi, Vaitsa
- Elting, Mariet W
- Padidela, Raja
- Plummer, Lacey
- Martin, Cecilia
- Feng, Bihua
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- Zhou, Qun-Yong
- Chen, Huaibin
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- Quinton, Richard
- Sidis, Yisrael
- Radovick, Sally
- Dattani, Mehul T
- Pitteloud, Nelly
2012
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American journal of human genetics, 2016-06, Vol.98 (6), p.1249-1255
- Madeo, Marianna
- Stewart, Michelle
- Sun, Yuyang
- Sahir, Nadia
- Wiethoff, Sarah
- Chandrasekar, Indra
- Yarrow, Anna
- Rosenfeld, Jill A.
- Yang, Yaping
- Cordeiro, Dawn
- McCormick, Elizabeth M.
- Muraresku, Colleen C.
- Jepperson, Tyler N.
- McBeth, Lauren J.
- Seidahmed, Mohammed Zain
- El Khashab, Heba Y.
- Hamad, Muddathir
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- Clark, Karl
- Corrochano, Silvia
- Wells, Sara
- Elting, Mariet W.
- Weiss, Marjan M.
- Burn, Sabrina
- Myers, Angela
- Landsverk, Megan
- Crotwell, Patricia L.
- Waisfisz, Quinten
- Wolf, Nicole I.
- Nolan, Patrick M.
- Padilla-Lopez, Sergio
- Houlden, Henry
- Lifton, Richard
- Mane, Shrikant
- Singh, Brij B.
- Falk, Marni J.
- Mercimek-Mahmutoglu, Saadet
- Bilguvar, Kaya
- Salih, Mustafa A.
- Acevedo-Arozena, Abraham
- Kruer, Michael C.
2016
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Frontiers in endocrinology (Lausanne), 2022-04, Vol.13, p.869604-869604
2022
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Biomolecules (Basel, Switzerland), 2023-02, Vol.13 (2), p.281
2023
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Frontiers in medicine, 2021-10, Vol.8, p.737936-737936
2021
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American journal of medical genetics. Part B, Neuropsychiatric genetics, 2012-09, Vol.159B (6), p.628-643
2012
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American journal of human genetics, 2020-09, Vol.107 (3), p.499-513
- Motta, Marialetizia
- Pannone, Luca
- Pantaleoni, Francesca
- Bocchinfuso, Gianfranco
- Radio, Francesca Clementina
- Cecchetti, Serena
- Ciolfi, Andrea
- Di Rocco, Martina
- Elting, Mariet W.
- Brilstra, Eva H.
- Boni, Stefania
- Mazzanti, Laura
- Tamburrino, Federica
- Walsh, Larry
- Payne, Katelyn
- Fernández-Jaén, Alberto
- Ganapathi, Mythily
- Chung, Wendy K.
- Grange, Dorothy K.
- Dave-Wala, Ashita
- Reshmi, Shalini C.
- Bartholomew, Dennis W.
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- Waclaw, Ronald R.
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- van Gassen, Koen
- Wentzensen, Ingrid M.
- Morrow, Michelle M.
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- Gelb, Bruce D.
- Zenker, Martin
- Dallapiccola, Bruno
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- Prada, Carlos E.
- Martinelli, Simone
- Flex, Elisabetta
- Tartaglia, Marco
2020
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Brain (London, England : 1878), 2019-11, Vol.142 (11), p.3351-3359
- Horn, Susanne
- Au, Margaret
- Basel-Salmon, Lina
- Bayrak-Toydemir, Pinar
- Chapin, Alexander
- Cohen, Lior
- Elting, Mariet W
- Graham, John M
- Gonzaga-Jauregui, Claudia
- Konen, Osnat
- Holzer, Max
- Lemke, Johannes
- Miller, Christine E
- Rey, Linda K
- Wolf, Nicole I
- Weiss, Marjan M
- Waisfisz, Quinten
- Mirzaa, Ghayda M
- Wieczorek, Dagmar
- Sticht, Heinrich
- Abou Jamra, Rami
2019
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Prenatal diagnosis, 2020-07, Vol.40 (8), p.972-983
- Deden, Chantal
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- Sallevelt, Suzanne C. E. H.
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- Maarle, Merel C.
- Diderich, Karin E. M.
- Corsten‐Janssen, Nicole
- Lichtenbelt, Klaske D.
- Lachmeijer, Guus
- Vissers, Lisenka E. L. M.
- Yntema, Helger G.
- Nelen, Marcel
- Feenstra, Ilse
- Zelst‐Stams, Wendy A. G.
2020
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Nature genetics, 2013-08, Vol.45 (8), p.951-956
- Hoff, Sylvia
- Halbritter, Jan
- Epting, Daniel
- Frank, Valeska
- Nguyen, Thanh-Minh T
- van Reeuwijk, Jeroen
- Boehlke, Christopher
- Schell, Christoph
- Yasunaga, Takayuki
- Helmstädter, Martin
- Mergen, Miriam
- Filhol, Emilie
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- Horn, Nicola
- Ueffing, Marius
- Otto, Edgar A
- Eisenberger, Tobias
- Elting, Mariet W
- van Wijk, Joanna A E
- Bockenhauer, Detlef
- Sebire, Neil J
- Rittig, Søren
- Vyberg, Mogens
- Ring, Troels
- Pohl, Martin
- Pape, Lars
- Neuhaus, Thomas J
- Elshakhs, Neveen A Soliman
- Koon, Sarah J
- Harris, Peter C
- Grahammer, Florian
- Huber, Tobias B
- Kuehn, E Wolfgang
- Kramer-Zucker, Albrecht
- Bolz, Hanno J
- Roepman, Ronald
- Saunier, Sophie
- Walz, Gerd
- Hildebrandt, Friedhelm
- Bergmann, Carsten
- Lienkamp, Soeren S
2013
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European journal of human genetics : EJHG, 2020-01, Vol.28 (1), p.40-49
- Pennings, Maartje
- Schouten, Meyke I.
- van Gaalen, Judith
- Meijer, Rowdy P. P.
- de Bot, Susanne T.
- Kriek, Marjolein
- Saris, Christiaan G. J.
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- Verschuuren, Corien C.
- de Vries, Bert B. A.
- Bruijn, Jacques
- Sofou, Kalliopi
- Duijkers, Floor A.
- Jaeger, B.
- Schieving, Jolanda H.
- van de Warrenburg, Bart P.
- Kamsteeg, Erik-Jan
2020
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American journal of human genetics, 2009-10, Vol.85 (4), p.521-527
- van Dijk, Fleur S.
- Nesbitt, Isabel M.
- Zwikstra, Eline H.
- Nikkels, Peter G.J.
- Piersma, Sander R.
- Fratantoni, Silvina A.
- Jimenez, Connie R.
- Huizer, Margriet
- Morsman, Alice C.
- Cobben, Jan M.
- van Roij, Mirjam H.H.
- Elting, Mariet W.
- Verbeke, Jonathan I.M.L.
- Wijnaendts, Liliane C.D.
- Shaw, Nick J.
- Högler, Wolfgang
- McKeown, Carole
- Sistermans, Erik A.
- Dalton, Ann
- Meijers-Heijboer, Hanne
- Pals, Gerard
2009
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Human mutation, 2013-10, Vol.34 (10), p.1322-1328
2013
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American journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.135-143
- Maia, Nuno
- Ibarluzea, Nekane
- Misra‐Isrie, Mala
- Koboldt, Daniel C.
- Marques, Isabel
- Soares, Gabriela
- Santos, Rosário
- Marcelis, Carlo L. M.
- Keski‐Filppula, Riikka
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- Gabau Vila, Elisabeth
- Lehman, April
- Hickey, Scott
- Mori, Mari
- Terhal, Paulien
- Valenzuela, Irene
- Lasa‐Aranzasti, Amaia
- Cueto‐González, Anna Maria
- Chhouk, Brian H.
- Yeh, Rebecca C.
- Neil, Jennifer E.
- Abu‐Libde, Bassam
- Kleefstra, Tjitske
- Elting, Mariet W.
- Császár, Andrea
- Kárteszi, Judit
- Bessenyei, Beáta
- Bokhoven, Hans
- Jorge, Paula
- Hagen, Johanna M.
- Brouwer, Arjan P. M.
2023
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American journal of medical genetics. Part A, 2016-07, Vol.170A (7), p.1874-1880
2016
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Epigenomics, 2023-03, Vol.15 (6), p.351-367
- Vos, Niels
- Reilly, Jack
- Elting, Mariet W
- Campeau, Philippe M
- Coman, David
- Stark, Zornitza
- Tan, Tiong Yang
- Amor, David J
- Kaur, Simran
- StJohn, Miya
- Morgan, Angela T
- Kamien, Benjamin A
- Patel, Chirag
- Tedder, Matthew L
- Merla, Giuseppe
- Prontera, Paolo
- Castori, Marco
- Muru, Kai
- Collins, Felicity
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- Zeev, Bruria Ben
- Murgia, Alessandra
- Leonardi, Emanuela
- Esber, Natacha
- Martinez-Monseny, Antonio
- Casas-Alba, Didac
- Wallis, Matthew
- Mannens, Marcel
- Levy, Michael A
- Relator, Raissa
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2023
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HGG advances, 2024-07, Vol.5 (3), p.100289, Article 100289
- van der Laan, Liselot
- Lauffer, Peter
- Rooney, Kathleen
- Silva, Ananília
- Haghshenas, Sadegheh
- Relator, Raissa
- Levy, Michael A.
- Trajkova, Slavica
- Huisman, Sylvia A.
- Bijlsma, Emilia K.
- Kleefstra, Tjitske
- van Bon, Bregje W.
- Baysal, Özlem
- Zweier, Christiane
- Palomares-Bralo, María
- Fischer, Jan
- Szakszon, Katalin
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- Piton, Amélie
- Mesman, Simone
- Hochstenbach, Ron
- Elting, Mariet W.
- van Hagen, Johanna M.
- Plomp, Astrid S.
- Mannens, Marcel M.A.M.
- Alders, Mariëlle
- van Haelst, Mieke M.
- Ferrero, Giovanni B.
- Brusco, Alfredo
- Henneman, Peter
- Sweetser, David A.
- Sadikovic, Bekim
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2024
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Journal of medical genetics, 2010-03, Vol.47 (3), p.169-175
2010
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Fertility and sterility, 2003-05, Vol.79 (5), p.1154-1160
2003
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Clinical endocrinology (Oxford), 2001-12, Vol.55 (6), p.767-776
2001
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Human mutation, 2022-11, Vol.43 (11), p.1609-1628
- Levy, Michael A.
- Relator, Raissa
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- Barat‐Houari, Mouna
- Bargiacchi, Sara
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- Palomares Bralo, María
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- DuPont, Barbara R.
- Elting, Mariet W.
- Faivre, Laurence
- Fee, Timothy
- Ferilli, Marco
- Fletcher, Robin S.
- Cherick, Florian
- Foroutan, Aidin
- Friez, Michael J.
- Gervasini, Cristina
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- Jenkins, Zandra
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- Lewis, Suzanne
- Louie, Raymond J.
- Maitz, Silvia
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- Morgan, Angela T.
- Oegema, Renske
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- Pallares, Nathalie R.
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- Squeo, Gabriella M.
- John, Miya St
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- Fahrner, Jill A.
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The journal of clinical endocrinology and metabolism, 2001-04, Vol.86 (4), p.1589-1595
2001
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HGG advances, 2022-01, Vol.3 (1), p.100075-100075, Article 100075
- Levy, Michael A.
- McConkey, Haley
- Kerkhof, Jennifer
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- Biamino, Elisa
- Bralo, María Palomares
- Cappuccio, Gerarda
- Ciolfi, Andrea
- Clarke, Angus
- DuPont, Barbara R.
- Elting, Mariet W.
- Faivre, Laurence
- Fee, Timothy
- Fletcher, Robin S.
- Cherik, Florian
- Foroutan, Aidin
- Friez, Michael J.
- Gervasini, Cristina
- Haghshenas, Sadegheh
- Hilton, Benjamin A.
- Jenkins, Zandra
- Kaur, Simranpreet
- Lewis, Suzanne
- Louie, Raymond J.
- Maitz, Silvia
- Milani, Donatella
- Morgan, Angela T.
- Oegema, Renske
- Østergaard, Elsebet
- Pallares, Nathalie Ruiz
- Piccione, Maria
- Pizzi, Simone
- Plomp, Astrid S.
- Poulton, Cathryn
- Reilly, Jack
- Relator, Raissa
- Rius, Rocio
- Robertson, Stephen
- Rooney, Kathleen
- Rousseau, Justine
- Santen, Gijs W.E.
- Santos-Simarro, Fernando
- Schijns, Josephine
- Squeo, Gabriella Maria
- St John, Miya
- Thauvin-Robinet, Christel
- Traficante, Giovanna
- van der Sluijs, Pleuntje J.
- Vergano, Samantha A.
- Vos, Niels
- Walden, Kellie K.
- Azmanov, Dimitar
- Balci, Tugce
- Banka, Siddharth
- Gecz, Jozef
- Henneman, Peter
- Lee, Jennifer A.
- Mannens, Marcel M.A.M.
- Roscioli, Tony
- Siu, Victoria
- Amor, David J.
- Baynam, Gareth
- Bend, Eric G.
- Boycott, Kym
- Brunetti-Pierri, Nicola
- Campeau, Philippe M.
- Christodoulou, John
- Dyment, David
- Esber, Natacha
- Fahrner, Jill A.
- Fleming, Mark D.
- Genevieve, David
- Kerrnohan, Kristin D.
- McNeill, Alisdair
- Menke, Leonie A.
- Merla, Giuseppe
- Prontera, Paolo
- Rockman-Greenberg, Cheryl
- Schwartz, Charles
- Skinner, Steven A.
- Stevenson, Roger E.
- Vitobello, Antonio
- Tartaglia, Marco
- Alders, Marielle
- Tedder, Matthew L.
- Sadikovic, Bekim
2022
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European journal of human genetics : EJHG, 2020-01, Vol.28 (1), p.40-49
- Pennings, Maartje
- Schouten, Meyke I
- van Gaalen, Judith
- Meijer, Rowdy P P
- de Bot, Susanne T
- Kriek, Marjolein
- Saris, Christiaan G J
- van den Berg, Leonard H
- van Es, Michael A
- Zuidgeest, Dick M H
- Elting, Mariet W
- van de Kamp, Jiddeke M
- van Spaendonck-Zwarts, Karin Y
- Die-Smulders, Christine de
- Brilstra, Eva H
- Verschuuren, Corien C
- de Vries, Bert B A
- Bruijn, Jacques
- Sofou, Kalliopi
- Duijkers, Floor A
- Jaeger, B
- Schieving, Jolanda H
- van de Warrenburg, Bart P
- Kamsteeg, Erik-Jan
2020
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