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The New England journal of medicine, 2012-12, Vol.367 (23), p.2175-2184
- Wapner, Ronald J
- Martin, Christa Lese
- Levy, Brynn
- Ballif, Blake C
- Eng, Christine M
- Zachary, Julia M
- Savage, Melissa
- Platt, Lawrence D
- Saltzman, Daniel
- Grobman, William A
- Klugman, Susan
- Scholl, Thomas
- Simpson, Joe Leigh
- McCall, Kimberly
- Aggarwal, Vimla S
- Bunke, Brian
- Nahum, Odelia
- Patel, Ankita
- Lamb, Allen N
- Thom, Elizabeth A
- Beaudet, Arthur L
- Ledbetter, David H
- Shaffer, Lisa G
- Jackson, Laird
2012
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Developmental biology, 2008-04, Vol.316 (2), p.524-537
2008
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The New England journal of medicine, 2019-01, Vol.380 (2), p.142-151
- Groopman, Emily E
- Marasa, Maddalena
- Cameron-Christie, Sophia
- Petrovski, Slavé
- Aggarwal, Vimla S
- Milo-Rasouly, Hila
- Li, Yifu
- Zhang, Junying
- Nestor, Jordan
- Krithivasan, Priya
- Lam, Wan Yee
- Mitrotti, Adele
- Piva, Stacy
- Kil, Byum H
- Chatterjee, Debanjana
- Reingold, Rachel
- Bradbury, Drew
- DiVecchia, Michael
- Snyder, Holly
- Mu, Xueru
- Mehl, Karla
- Balderes, Olivia
- Fasel, David A
- Weng, Chunhua
- Radhakrishnan, Jai
- Canetta, Pietro
- Appel, Gerald B
- Bomback, Andrew S
- Ahn, Wooin
- Uy, Natalie S
- Alam, Shumyle
- Cohen, David J
- Crew, Russell J
- Dube, Geoffrey K
- Rao, Maya K
- Kamalakaran, Sitharthan
- Copeland, Brett
- Ren, Zhong
- Bridgers, Joshua
- Malone, Colin D
- Mebane, Caroline M
- Dagaonkar, Neha
- Fellström, Bengt C
- Haefliger, Carolina
- Mohan, Sumit
- Sanna-Cherchi, Simone
- Kiryluk, Krzysztof
- Fleckner, Jan
- March, Ruth
- Platt, Adam
- Goldstein, David B
- Gharavi, Ali G
2019
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HGG advances, 2021-01, Vol.2 (1), p.100016, Article 100016
- Van De Weghe, Julie C.
- Giordano, Jessica L.
- Mathijssen, Inge B.
- Mojarrad, Majid
- Lugtenberg, Dorien
- Miller, Caitlin V.
- Dempsey, Jennifer C.
- Mohajeri, Mahsa Sadat Asl
- van Leeuwen, Elizabeth
- Pajkrt, Eva
- Klaver, Caroline C.W.
- Houlden, Henry
- Eslahi, Atieh
- Waters, Aoife M.
- Bamshad, Michael J.
- Nickerson, Deborah A.
- Aggarwal, Vimla S.
- de Vries, Bert B.A.
- Maroofian, Reza
- Doherty, Dan
2021
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Developmental disabilities research reviews, 2008, Vol.14 (1), p.19-25
2008
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Human molecular genetics, 2006-11, Vol.15 (21), p.3219-3228
2006
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Bone (New York, N.Y.), 2022-01, Vol.154, p.116253-116253, Article 116253
2022
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Otology & neurotology, 2023-01, Vol.44 (1), p.16
2023
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American journal of human genetics, 2023-09, Vol.110 (9), p.1454-1469
- Lowther, Chelsea
- Valkanas, Elise
- Giordano, Jessica L.
- Wang, Harold Z.
- Currall, Benjamin B.
- O’Keefe, Kathryn
- Pierce-Hoffman, Emma
- Kurtas, Nehir E.
- Whelan, Christopher W.
- Hao, Stephanie P.
- Weisburd, Ben
- Jalili, Vahid
- Fu, Jack
- Wong, Isaac
- Collins, Ryan L.
- Zhao, Xuefang
- Austin-Tse, Christina A.
- Evangelista, Emily
- Lemire, Gabrielle
- Aggarwal, Vimla S.
- Lucente, Diane
- Gauthier, Laura D.
- Tolonen, Charlotte
- Sahakian, Nareh
- Stevens, Christine
- An, Joon-Yong
- Dong, Shan
- Norton, Mary E.
- MacKenzie, Tippi C.
- Devlin, Bernie
- Gilmore, Kelly
- Powell, Bradford C.
- Brandt, Alicia
- Vetrini, Francesco
- DiVito, Michelle
- Sanders, Stephan J.
- MacArthur, Daniel G.
- Hodge, Jennelle C.
- O'Donnell-Luria, Anne
- Rehm, Heidi L.
- Vora, Neeta L.
- Levy, Brynn
- Brand, Harrison
- Wapner, Ronald J.
- Talkowski, Michael E.
2023
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Clinical journal of the American Society of Nephrology, 2020-05, Vol.15 (5), p.651-664
- Nestor, Jordan G
- Marasa, Maddalena
- Milo-Rasouly, Hila
- Groopman, Emily E
- Husain, S Ali
- Mohan, Sumit
- Fernandez, Hilda
- Aggarwal, Vimla S
- Ahram, Dina F
- Vena, Natalie
- Bogyo, Kelsie
- Bomback, Andrew S
- Radhakrishnan, Jai
- Appel, Gerald B
- Ahn, Wooin
- Cohen, David J
- Canetta, Pietro A
- Dube, Geoffrey K
- Rao, Maya K
- Morris, Heather K
- Crew, Russell J
- Sanna-Cherchi, Simone
- Kiryluk, Krzysztof
- Gharavi, Ali G
2020
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Developmental biology, 2010-08, Vol.344 (2), p.669-681
2010
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The Journal of molecular diagnostics : JMD, 2017-03, Vol.19 (2), p.277-287
2017
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Journal of clinical immunology, 2014-08, Vol.34 (6), p.607-610
2014
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American journal of medical genetics. Part A, 2017-12, Vol.173 (12), p.3158-3164
2017
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Human molecular genetics, 2004-08, Vol.13 (15), p.1577-1585
2004
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BMC developmental biology, 2009-05, Vol.9 (1), p.31-31
2009
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Developmental medicine and child neurology, 2021-12, Vol.63 (12), p.1448-1455
2021
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Journal of the American College of Cardiology, 2005-09, Vol.46 (5), p.930-931
2005
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Epilepsia (Copenhagen), 2019-05, Vol.60 (5), p.797-806
- Berkovic, Samuel F.
- Goldstein, David B.
- Heinzen, Erin L.
- Laughlin, Brandon L.
- Lowenstein, Daniel H.
- Lubbers, Laura
- Stewart, Randall
- Whittemore, Vicky
- Angione, Kaitlin
- Bazil, Carl W.
- Bier, Louise
- Bluvstein, Judith
- Brimble, Elise
- Campbell, Colleen
- Cavalleri, Gianpiero
- Chambers, Chelsea
- Choi, Hyunmi
- Cilio, Maria Roberta
- Ciliberto, Michael
- Cornes, Susannah
- Delanty, Norman
- Demarest, Scott
- Devinsky, Orrin
- Dlugos, Dennis
- Dubbs, Holly
- Dugan, Patricia
- Ernst, Michelle E.
- Gibbons, Melissa
- Goodkin, Howard P.
- Helbig, Ingo
- Jansen, Laura
- Johnson, Kaleas
- Joshi, Charuta
- Lippa, Natalie C.
- Marsh, Eric
- Martinez, Alejandro
- Millichap, John
- Mulhern, Maureen S.
- Numis, Adam
- Park, Kristen
- Pippucci, Tommaso
- Poduri, Annapurna
- Porter, Brenda
- Regan, Brigid
- Sands, Tristan T.
- Scheffer, Ingrid E.
- Schreiber, John M.
- Sheidley, Beth
- Singhal, Nilika
- Smith, Lacey
- Sullivan, Joseph
- Taylor, Alan
- Tolete, Patricia
- Afgani, Tahseen M.
- Aggarwal, Vimla
- Burgess, Rosemary
- Dixon‐Salazar, Tracy
- Hemati, Parisa
- Milder, Julie
- Petrovski, Slavé
- Revah‐Politi, Anya
- Stong, Nicholas
2019
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Epilepsia (Copenhagen), 2021-04, Vol.62 (4), p.973-983
- Allen, Andrew S
- Aggarwal, Vimla
- Berkovic, Samuel F
- Cossette, Patrick
- Delanty, Norman
- Dlugos, Dennis
- Eichler, Evan E
- Epstein, Michael P
- Freyer, Catharine
- Goldstein, David B
- Guerrini, Renzo
- Glauser, Tracy
- Heinzen, Erin L
- Johnson, Michael R
- Kuzniecky, Ruben
- Lowenstein, Daniel H
- Marson, Anthony G
- Mefford, Heather C
- O'Brien, Terence J
- Ottman, Ruth
- Poduri, Annapurna
- Petrou, Stephen
- Petrovski, Slavé
- Ruzzo, Elizabeth K
- Scheffer, Ingrid E
- Sherr, Elliott H
- Abou‐Khalil, Bassel
- Amrom, Dina
- Andermann, Eva
- Andermann, Frederick
- Berkovic, Samuel F.
- Bluvstein, Judith
- Boro, Alexis
- Cascino, Greg
- Consalvo, Damian
- Crumrine, Pat
- Devinsky, Orrin
- Fountain, Nathan
- Friedman, Dan
- Geller, Eric
- Glynn, Simon
- Haas, Kevin
- Haut, Sheryl
- Joshi, Sucheta
- Kirsch, Heidi
- Knowlton, Robert
- Kossoff, Eric
- Lowenstein, Daniel H.
- Motika, Paul V.
- Paolicchi, Juliann M.
- Parent, Jack M.
- Scheffer, Ingrid
- Shellhaas, Renée A.
- Sherr, Elliott H.
- Shih, Jerry J.
- Shinnar, Shlomo
- Singh, Rani K.
- Sperling, Michael
- Smith, Michael C.
- Sullivan, Joseph
- Vining, Eileen P. G.
- Von Allmen, Gretchen K.
- Widdess‐Walsh, Peter
- Winawer, Melodie R.
- Bautista, Jocelyn
- Fiol, Miguel
- Hayward, Jean
- Helmers, Sandra
- Park, Kristen
- Sirven, Joseph
- Lin Thio, Liu
- Venkat, Anu
- Weisenberg, Judith
- Kuperman, Rachel
- McGuire, Shannon
- Novotny, Edward
- Sadleir, Lynette
2021
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American journal of human genetics, 2021-02, Vol.108 (2), p.357-367
- Weng, Patricia L.
- Majmundar, Amar J.
- Khan, Kamal
- Lim, Tze Y.
- Shril, Shirlee
- Jin, Gina
- Musgrove, John
- Wang, Minxian
- Ahram, Dina F.
- Aggarwal, Vimla S.
- Bier, Louise E.
- Heinzen, Erin L.
- Onuchic-Whitford, Ana C.
- Mann, Nina
- Buerger, Florian
- Schneider, Ronen
- Deutsch, Konstantin
- Kitzler, Thomas M.
- Klämbt, Verena
- Kolb, Amy
- Mao, Youying
- Moufawad El Achkar, Christelle
- Mitrotti, Adele
- Martino, Jeremiah
- Beck, Bodo B.
- Altmüller, Janine
- Benz, Marcus R.
- Yano, Shoji
- Mikati, Mohamad A.
- Gunduz, Talha
- Cope, Heidi
- Shashi, Vandana
- Trachtman, Howard
- Bodria, Monica
- Caridi, Gianluca
- Pisani, Isabella
- Fiaccadori, Enrico
- AbuMaziad, Asmaa S.
- Martinez-Agosto, Julian A.
- Yadin, Ora
- Zuckerman, Jonathan
- Kim, Arang
- John-Kroegel, Ulrike
- Tyndall, Amanda V.
- Parboosingh, Jillian S.
- Innes, A. Micheil
- Bierzynska, Agnieszka
- Koziell, Ania B.
- Muorah, Mordi
- Saleem, Moin A.
- Hoefele, Julia
- Riedhammer, Korbinian M.
- Gharavi, Ali G.
- Jobanputra, Vaidehi
- Pierce-Hoffman, Emma
- Seaby, Eleanor G.
- O’Donnell-Luria, Anne
- Rehm, Heidi L.
- Mane, Shrikant
- D’Agati, Vivette D.
- Pollak, Martin R.
- Ghiggeri, Gian Marco
- Lifton, Richard P.
- Goldstein, David B.
- Davis, Erica E.
- Hildebrandt, Friedhelm
- Sanna-Cherchi, Simone
2021
Link zum Volltext
American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2259-2275
- Hemati, Parisa
- Revah‐Politi, Anya
- Bassan, Haim
- Petrovski, Slavé
- Bilancia, Colleen G.
- Ramsey, Keri
- Griffin, Nicole G.
- Bier, Louise
- Cho, Megan T.
- Rosello, Monica
- Lynch, Sally Ann
- Colombo, Sophie
- Weber, Astrid
- Haug, Marte
- Heinzen, Erin L.
- Sands, Tristan T.
- Narayanan, Vinodh
- Primiano, Michelle
- Aggarwal, Vimla S.
- Millan, Francisca
- Sattler‐Holtrop, Shannon G.
- Caro‐Llopis, Alfonso
- Pillar, Nir
- Baker, Janice
- Freedman, Rebecca
- Kroes, Hester Y.
- Sacharow, Stephanie
- Stong, Nick
- Lapunzina, Pablo
- Schneider, Michael C.
- Mendelsohn, Nancy J.
- Singleton, Amanda
- Loik Ramey, Valerie
- Wou, Karen
- Kuzminsky, Alla
- Monfort, Sandra
- Weisz Hubshman, Monika
- Doyle, Samantha
- Iglesias, Alejandro
- Martinez, Francisco
- Mckenzie, Fiona
- Orellana, Carmen
- Gassen, Koen L.I.
- Palomares, Maria
- Bazak, Lily
- Lee, Andy
- Bircher, Ana
- Basel‐Vanagaite, Lina
- Hafström, Maria
- Houge, Gunnar
- Goldstein, David B.
- Anyane‐Yeboa, Kwame
2018
Link zum Volltext
Kidney international reports, 2022-10, Vol.7 (10), p.2312-2316
2022
Link zum Volltext
The Lancet (British edition), 2019-02, Vol.393 (10173), p.758-767
- Petrovski, Slavé
- Aggarwal, Vimla
- Giordano, Jessica L
- Stosic, Melissa
- Wou, Karen
- Bier, Louise
- Spiegel, Erica
- Brennan, Kelly
- Stong, Nicholas
- Jobanputra, Vaidehi
- Ren, Zhong
- Zhu, Xiaolin
- Mebane, Caroline
- Nahum, Odelia
- Wang, Quanli
- Kamalakaran, Sitharthan
- Malone, Colin
- Anyane-Yeboa, Kwame
- Miller, Russell
- Levy, Brynn
- Goldstein, David B
- Wapner, Ronald J
2019
Link zum Volltext
Development (Cambridge), 2011-12, Vol.138 (24), p.5403-5414
2011
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