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Molecular genetics & genomic medicine, 2020-11, Vol.8 (11), p.e1508-n/a
- Tan, Natalie B.
- Stapleton, Rachel
- Stark, Zornitza
- Delatycki, Martin B.
- Yeung, Alison
- Hunter, Matthew F.
- Amor, David J.
- Brown, Natasha J.
- Stutterd, Chloe A.
- McGillivray, George
- Yap, Patrick
- Regan, Matthew
- Chong, Belinda
- Fanjul Fernandez, Miriam
- Marum, Justine
- Phelan, Dean
- Pais, Lynn S.
- White, Susan M.
- Lunke, Sebastian
- Tan, Tiong Y.
2020
Link zum Volltext
Human mutation, 2022-06, Vol.43 (6), p.698-707
- Pais, Lynn S.
- Snow, Hana
- Weisburd, Ben
- Zhang, Shifa
- Baxter, Samantha M.
- DiTroia, Stephanie
- O'Heir, Emily
- England, Eleina
- Chao, Katherine R.
- Lemire, Gabrielle
- Osei‐Owusu, Ikeoluwa
- VanNoy, Grace E.
- Wilson, Michael
- Nguyen, Kevin
- Arachchi, Harindra
- Phu, William
- Solomonson, Matthew
- Mano, Stacy
- O'Leary, Melanie
- Lovgren, Alysia
- Babb, Lawrence
- Austin‐Tse, Christina A.
- Rehm, Heidi L.
- MacArthur, Daniel G.
- O'Donnell‐Luria, Anne
2022
Link zum Volltext
American journal of human genetics, 2022-04, Vol.109 (4), p.587-600
- Broly, Martin
- Polevoda, Bogdan V.
- Awayda, Kamel M.
- Tong, Ning
- Lentini, Jenna
- Besnard, Thomas
- Deb, Wallid
- O’Rourke, Declan
- Baptista, Julia
- Ellard, Sian
- Almannai, Mohammed
- Hashem, Mais
- Abdulwahab, Ferdous
- Shamseldin, Hanan
- Al-Tala, Saeed
- Alkuraya, Fowzan S.
- Leon, Alberta
- van Loon, Rosa L.E.
- Ferlini, Alessandra
- Sanchini, Mariabeatrice
- Bigoni, Stefania
- Ciorba, Andrea
- van Bokhoven, Hans
- Iqbal, Zafar
- Al-Maawali, Almundher
- Al-Murshedi, Fathiya
- Ganesh, Anuradha
- Al-Mamari, Watfa
- Lim, Sze Chern
- Pais, Lynn S.
- Brown, Natasha
- Riazuddin, Saima
- Bézieau, Stéphane
- Fu, Dragony
- Isidor, Bertrand
- Cogné, Benjamin
- O’Connell, Mitchell R.
2022
Link zum Volltext
Annals of neurology, 2022-02, Vol.91 (2), p.225-237
- Zech, Michael
- Kopajtich, Robert
- Steinbrücker, Katja
- Bris, Céline
- Gueguen, Naig
- Feichtinger, René G.
- Achleitner, Melanie T.
- Duzkale, Neslihan
- Périvier, Maximilien
- Koch, Johannes
- Engelhardt, Harald
- Freisinger, Peter
- Wagner, Matias
- Brunet, Theresa
- Berutti, Riccardo
- Smirnov, Dmitrii
- Navaratnarajah, Tharsini
- Rodenburg, Richard J.T.
- Pais, Lynn S
- Austin‐Tse, Christina
- O'Leary, Melanie
- Boesch, Sylvia
- Jech, Robert
- Bakhtiari, Somayeh
- Jin, Sheng Chih
- Wilbert, Friederike
- Kruer, Michael C
- Wortmann, Saskia B.
- Eckenweiler, Matthias
- Mayr, Johannes A.
- Distelmaier, Felix
- Steinfeld, Robert
- Winkelmann, Juliane
- Prokisch, Holger
2022
Link zum Volltext
American journal of human genetics, 2021-10, Vol.108 (10), p.2017-2023
- Lemire, Gabrielle
- Ito, Yoko A.
- Marshall, Aren E.
- Chrestian, Nicolas
- Stanley, Valentina
- Brady, Lauren
- Tarnopolsky, Mark
- Curry, Cynthia J.
- Hartley, Taila
- Mears, Wendy
- Derksen, Alexa
- Rioux, Nadie
- Laflamme, Nataly
- Hutchison, Harrol T.
- Pais, Lynn S.
- Zaki, Maha S.
- Sultan, Tipu
- Dane, Adrie D.
- Gleeson, Joseph G.
- Vaz, Frédéric M.
- Kernohan, Kristin D.
- Bernard, Geneviève
- Boycott, Kym M.
2021
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The Journal of clinical investigation, 2024-02, Vol.134 (4), p.1-14
- Szot, Justin O
- Cuny, Hartmut
- Martin, Ella Mma
- Sheng, Delicia Z
- Iyer, Kavitha
- Portelli, Stephanie
- Nguyen, Vivien
- Gereis, Jessica M
- Alankarage, Dimuthu
- Chitayat, David
- Chong, Karen
- Wentzensen, Ingrid M
- Vincent-Delormé, Catherine
- Lermine, Alban
- Burkitt-Wright, Emma
- Ji, Weizhen
- Jeffries, Lauren
- Pais, Lynn S
- Tan, Tiong Y
- Pitt, James
- Wise, Cheryl A
- Wright, Helen
- Andrews, Israel D
- Pruniski, Brianna
- Grebe, Theresa A
- Corsten-Janssen, Nicole
- Bouman, Katelijne
- Poulton, Cathryn
- Prakash, Supraja
- Keren, Boris
- Brown, Natasha J
- Hunter, Matthew F
- Heath, Oliver
- Lakhani, Saquib A
- McDermott, John H
- Ascher, David B
- Chapman, Gavin
- Bozon, Kayleigh
- Dunwoodie, Sally L
2024
Link zum Volltext
Acta neuropathologica, 2023-04, Vol.145 (4), p.479-496
- Nascimento, Andres
- Bruels, Christine C.
- Donkervoort, Sandra
- Foley, A. Reghan
- Codina, Anna
- Milisenda, Jose C.
- Estrella, Elicia A.
- Li, Chengcheng
- Pijuan, Jordi
- Draper, Isabelle
- Hu, Ying
- Stafki, Seth A.
- Pais, Lynn S.
- Ganesh, Vijay S.
- O’Donnell-Luria, Anne
- Syeda, Safoora B.
- Carrera-García, Laura
- Expósito-Escudero, Jessica
- Yubero, Delia
- Martorell, Loreto
- Pinal-Fernandez, Iago
- Lidov, Hart G. W.
- Mammen, Andrew L.
- Grau-Junyent, Josep M.
- Ortez, Carlos
- Palau, Francesc
- Ghosh, Partha S.
- Darras, Basil T.
- Jou, Cristina
- Kunkel, Louis M.
- Hoenicka, Janet
- Bönnemann, Carsten G.
- Kang, Peter B.
- Natera-de Benito, Daniel
2023
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American journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2384-2390
- Dias, Caroline
- Pfundt, Rolph
- Kleefstra, Tjitske
- Shuurs‐Hoeijmakers, Janneke
- Boon, Elles M. J.
- Hagen, Johanna M.
- Zwijnenburg, Petra
- Weiss, Marjan M.
- Keren, Boris
- Mignot, Cyril
- Isapof, Arnaud
- Weiss, Karin
- Hershkovitz, Tova
- Iascone, Maria
- Maitz, Silvia
- Feichtinger, René G.
- Kotzot, Dieter
- Mayr, Johannes A.
- Ben‐Omran, Tawfeg
- Mahmoud, Laila
- Pais, Lynn S.
- Walsh, Christopher A.
- Shashi, Vandana
- Sullivan, Jennifer A.
- Stong, Nicholas
- Lecoquierre, Francois
- Guerrot, Anne‐Marie
- Charollais, Aude
- Rodan, Lance H.
2021
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Science advances, 2021-05, Vol.7 (20)
- Li, Dong
- Wang, Qin
- Gong, Naihua N
- Kurolap, Alina
- Feldman, Hagit Baris
- Boy, Nikolas
- Brugger, Melanie
- Grand, Katheryn
- McWalter, Kirsty
- Guillen Sacoto, Maria J
- Wakeling, Emma
- Hurst, Jane
- March, Michael E
- Bhoj, Elizabeth J
- Nowaczyk, Małgorzata J M
- Gonzaga-Jauregui, Claudia
- Mathew, Mariam
- Dava-Wala, Ashita
- Siemon, Amy
- Bartholomew, Dennis
- Huang, Yue
- Lee, Hane
- Martinez-Agosto, Julian A
- Schwaibold, Eva M C
- Brunet, Theresa
- Choukair, Daniela
- Pais, Lynn S
- White, Susan M
- Christodoulou, John
- Brown, Dana
- Lindstrom, Kristin
- Grebe, Theresa
- Tiosano, Dov
- Kayser, Matthew S
- Tan, Tiong Yang
- Deardorff, Matthew A
- Song, Yuanquan
- Hakonarson, Hakon
2021
Link zum Volltext
American journal of human genetics, 2019-06, Vol.104 (6), p.1210-1222
- Abou Jamra, Rami
- Accogli, Andrea
- Amburgey, Kimberly
- Basinger, Alice A.
- Ceulemans, Sophia
- Charles, Perrine
- McRae, Jeremy F.
- Rajan, Diana
- Ambridge, Kirsty
- Jones, Philip
- Jones, Wendy D.
- Ahmed, Munaza
- Anjum, Uruj
- Armstrong, Ruth
- Barnicoat, Angela
- Bennett, Chris
- Blair, Edward
- Blyth, Moira
- Bourdon, Louise
- Brady, Angela
- Burn, John
- Canham, Natalie
- Cilliers, Deirdre
- Clayton-Smith, Jill
- Coates, Andrea
- Cooper, Nicola
- Dabir, Tabib
- Davies, Sally
- Dean, John
- Devlin, Gemma
- Donnai, Dian
- Donnelly, Carina
- Evans, Karenza
- Fendick, Tina
- Goodship, Judith
- Green, Andrew
- Harrison, Lucy
- Holden, Simon
- Jarvis, Joanna
- Johnson, Diana
- Jones, Elizabeth
- Kumar, V. K. Ajith
- Lachlan, Katherine
- Langman, Caroline
- Maye, Una
- McMullan, Dominic J.
- McWilliam, Catherine
- Metcalfe, Kay
- Norman, Andrew
- Ogilvie, Caroline
- Park, Soo-Mi
- Phipps, Julie
- Prescott, Katrina
- Procter, Annie
- Purnell, Hellen
- Ross, Alison
- Sampson, Julian
- Shannon, Nora
- Skitt, Zara
- Stewart, Fiona
- Stewart, Helen
- Swaminathan, Ganesh Jawahar
- Taylor, Cat
- Tein, Mark
- Treacy, Becky
- Vandersteen, Anthony
- Wallwark, Sarah
- Waters, Jonathon
- Weber, Astrid
- Whiteford, Margo
- Widaa, Sara
- Wilcox, Sarah
- Wilkinson, Emily
- Parker, Michael
- FitzPatrick, David R.
- Demurger, Florence
- Eiset, Saga Elise
- Ferrarini, Alessandra
- Haack, Tobias B.
- Hashim, Mona
- Jonasson, Amy R.
- Kok, Fernando
- Marcelis, Carlo L.M.
- McWalter, Kirsty
- Mercimek-Andrews, Saadet
- Person, Richard
- Ramelli, Gian Paolo
- Rauch, Anita
- Sanchez-Valle, Amarilis
- Sattar, Shifteh
- Saunders, Carol
- Steindl, Katharina
- Syrbe, Steffen
- Taylor, Jenny C.
- Trauner, Doris A.
- Vogel, Ida
- Widjaja, Elysa
- Zak, Jaroslav
- Banka, Siddharth
- Rodan, Lance H.
2019
Link zum Volltext
Neuron (Cambridge, Mass.), 2021-01, Vol.109 (2), p.241-256.e9
- Chai, Guoliang
- Webb, Alice
- Li, Chen
- Antaki, Danny
- Lee, Sangmoon
- Breuss, Martin W.
- Lang, Nhi
- Stanley, Valentina
- Anzenberg, Paula
- Yang, Xiaoxu
- Marshall, Trevor
- Gaffney, Patrick
- Wierenga, Klaas J.
- Chung, Brian Hon-Yin
- Tsang, Mandy Ho-Yin
- Pais, Lynn S.
- Lovgren, Alysia Kern
- VanNoy, Grace E.
- Rehm, Heidi L.
- Mirzaa, Ghayda
- Leon, Eyby
- Diaz, Jullianne
- Neumann, Alexander
- Kalverda, Arnout P.
- Manfield, Iain W.
- Parry, David A.
- Logan, Clare V.
- Johnson, Colin A.
- Bonthron, David T.
- Valleley, Elizabeth M.A.
- Issa, Mahmoud Y.
- Abdel-Ghafar, Sherif F.
- Abdel-Hamid, Mohamed S.
- Jennings, Patricia
- Zaki, Maha S.
- Sheridan, Eamonn
- Gleeson, Joseph G.
2021
Link zum Volltext
2021
- Link zum Volltext
Journal of medical genetics, 2022-05, Vol.59 (5), p.511
- Tan, Natalie B
- Pagnamenta, Alistair T
- Ferla, Matteo P
- Gadian, Jonathan
- Chung, Brian Hy
- Chan, Marcus Cy
- Fung, Jasmine Lf
- Cook, Edwin
- Guter, Stephen
- Boschann, Felix
- Heinen, Andre
- Schallner, Jens
- Mignot, Cyril
- Keren, Boris
- Whalen, Sandra
- Sarret, Catherine
- Mittag, Dana
- Demmer, Laurie
- Stapleton, Rachel
- Saida, Ken
- Matsumoto, Naomichi
- Miyake, Noriko
- Sheffer, Ruth
- Mor-Shaked, Hagar
- Barnett, Christopher P
- Byrne, Alicia B
- Scott, Hamish S
- Kraus, Alison
- Cappuccio, Gerarda
- Brunetti-Pierri, Nicola
- Iorio, Raffaele
- Di Dato, Fabiola
- Pais, Lynn S
- Yeung, Alison
- Tan, Tiong Y
- Taylor, Jenny C
- Christodoulou, John
- White, Susan M
2022
Link zum Volltext
Genetics in medicine, 2022-06, Vol.24 (6), p.1283-1296
- van der Spek, Jet
- den Hoed, Joery
- Snijders Blok, Lot
- Dingemans, Alexander J.M.
- Schijven, Dick
- Nellaker, Christoffer
- Venselaar, Hanka
- Astuti, Galuh D.N.
- Barakat, Tahsin Stefan
- Bebin, E. Martina
- Beck-Wödl, Stefanie
- Beunders, Gea
- Brown, Natasha J.
- Brunet, Theresa
- Brunner, Han G.
- Campeau, Philippe M.
- Čuturilo, Goran
- Gilissen, Christian
- Haack, Tobias B.
- Hüning, Irina
- Husain, Ralf A.
- Kamien, Benjamin
- Lim, Sze Chern
- Lovrecic, Luca
- Magg, Janine
- Maver, Ales
- Miranda, Valancy
- Monteil, Danielle C.
- Ockeloen, Charlotte W.
- Pais, Lynn S.
- Plaiasu, Vasilica
- Raiti, Laura
- Richmond, Christopher
- Rieß, Angelika
- Schwaibold, Eva M.C.
- Simon, Marleen E.H.
- Spranger, Stephanie
- Tan, Tiong Yang
- Thompson, Michelle L.
- de Vries, Bert B.A.
- Wilkins, Ella J.
- Willemsen, Marjolein H.
- Francks, Clyde
- Vissers, Lisenka E.L.M.
- Fisher, Simon E.
- Kleefstra, Tjitske
2022
Link zum Volltext
Journal of medical genetics, 2022-07, Vol.59 (7), p.697
- Velmans, Clara
- O'Donnell-Luria, Anne H
- Argilli, Emanuela
- Tran Mau-Them, Frederic
- Vitobello, Antonio
- Chan, Marcus Cy
- Fung, Jasmine Lee-Fong
- Rech, Megan
- Abicht, Angela
- Aubert Mucca, Marion
- Carmichael, Jason
- Chassaing, Nicolas
- Clark, Robin
- Coubes, Christine
- Denommé-Pichon, Anne-Sophie
- de Dios, John Karl
- England, Eleina
- Funalot, Benoit
- Gerard, Marion
- Joseph, Maries
- Kennedy, Colleen
- Kumps, Camille
- Willems, Marjolaine
- van de Laar, Ingrid M B H
- Aarts-Tesselaar, Coranne
- van Slegtenhorst, Marjon
- Lehalle, Daphné
- Leppig, Kathleen
- Lessmeier, Lennart
- Pais, Lynn S
- Paterson, Heather
- Ramanathan, Subhadra
- Rodan, Lance H
- Superti-Furga, Andrea
- Chung, Brian H Y
- Sherr, Elliott
- Netzer, Christian
- Schaaf, Christian P
- Erger, Florian
2022
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Genetics in medicine, 2021-10, Vol.23 (10), p.1933-1943
- Lin, Sheng-Jia
- Barbalho, Patricia G.
- Kaiyrzhanov, Rauan
- Maroofian, Reza
- Petree, Cassidy
- Severino, Mariasavina
- Stanley, Valentina
- Varshney, Pratishtha
- Bahena, Paulina
- Alzahrani, Fatema
- Alhashem, Amal
- Pagnamenta, Alistair T.
- Aubertin, Gudrun
- Estrada-Veras, Juvianee I.
- Hernández, Héctor Adrián Díaz
- Mazaheri, Neda
- Oza, Andrea
- Thies, Jenny
- Renaud, Deborah L.
- Dugad, Sanmati
- McEvoy, Jennifer
- Sultan, Tipu
- Pais, Lynn S.
- Tabarki, Brahim
- Villalobos-Ramirez, Daniel
- Rad, Aboulfazl
- Ambrose, J.C.
- Arumugam, P.
- Bleda, M.
- Boardman-Pretty, F.
- Boustred, C.R.
- Brittain, H.
- Caulfield, M.J.
- Chan, G.C.
- Fowler, T.
- Giess, A.
- Hamblin, A.
- Henderson, S.
- Hubbard, T.J.P.
- Jackson, R.
- Jones, L.J.
- Kasperaviciute, D.
- Kayikci, M.
- Kousathanas, A.
- Lahnstein, L.
- Leigh, S.E.A.
- Leong, I.U.S.
- Lopez, F.J.
- Maleady-Crowe, F.
- Moutsianas, L.
- Mueller, M.
- Murugaesu, N.
- Need, A.C.
- O‘Donovan, P.
- Odhams, C.A.
- Patch, C.
- Perez-Gil, D.
- Pereira, M.B.
- Pullinger, J.
- Rendon, A.
- Rogers, T.
- Savage, K.
- Sawant, K.
- Scott, R.H.
- Siddiq, A.
- Sieghart, A.
- Smith, S.C.
- Sosinsky, A.
- Stuckey, A.
- Tanguy, M.
- Thomas, E.R.A.
- Thompson, S.R.
- Tucci, A.
- Walsh, E.
- Welland, M.J.
- Williams, E.
- Witkowska, K.
- Wood, S.M.
- Galehdari, Hamid
- Ashrafzadeh, Farah
- Sahebzamani, Afsaneh
- Saeidi, Kolsoum
- Torti, Erin
- Elloumi, Houda Z.
- Mora, Sara
- Palculict, Timothy B.
- Yang, Hui
- Ben Fowler
- Joshi, Manali
- Behra, Martine
- Burgess, Shawn M.
- Nath, Swapan K.
- Kenna, Margaret
- Houlden, Henry
- Karimiani, Ehsan Ghayoor
- Zaki, Maha S.
- Haaf, Thomas
- Alkuraya, Fowzan S.
- Gleeson, Joseph G.
- Varshney, Gaurav K.
2021
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Human genomics, 2024-04, Vol.18 (1), p.44-44, Article 44
- Stenton, Sarah L
- O'Leary, Melanie C
- Lemire, Gabrielle
- VanNoy, Grace E
- DiTroia, Stephanie
- Ganesh, Vijay S
- Groopman, Emily
- O'Heir, Emily
- Mangilog, Brian
- Osei-Owusu, Ikeoluwa
- Pais, Lynn S
- Serrano, Jillian
- Singer-Berk, Moriel
- Weisburd, Ben
- Wilson, Michael W
- Austin-Tse, Christina
- Abdelhakim, Marwa
- Althagafi, Azza
- Babbi, Giulia
- Bellazzi, Riccardo
- Bovo, Samuele
- Carta, Maria Giulia
- Casadio, Rita
- Coenen, Pieter-Jan
- De Paoli, Federica
- Floris, Matteo
- Gajapathy, Manavalan
- Hoehndorf, Robert
- Jacobsen, Julius O B
- Joseph, Thomas
- Kamandula, Akash
- Katsonis, Panagiotis
- Kint, Cyrielle
- Lichtarge, Olivier
- Limongelli, Ivan
- Lu, Yulan
- Magni, Paolo
- Mamidi, Tarun Karthik Kumar
- Martelli, Pier Luigi
- Mulargia, Marta
- Nicora, Giovanna
- Nykamp, Keith
- Pejaver, Vikas
- Peng, Yisu
- Pham, Thi Hong Cam
- Podda, Maurizio S
- Rao, Aditya
- Rizzo, Ettore
- Saipradeep, Vangala G
- Savojardo, Castrense
- Schols, Peter
- Shen, Yang
- Sivadasan, Naveen
- Smedley, Damian
- Soru, Dorian
- Srinivasan, Rajgopal
- Sun, Yuanfei
- Sunderam, Uma
- Tan, Wuwei
- Tiwari, Naina
- Wang, Xiao
- Wang, Yaqiong
- Williams, Amanda
- Worthey, Elizabeth A
- Yin, Rujie
- You, Yuning
- Zeiberg, Daniel
- Zucca, Susanna
- Bakolitsa, Constantina
- Brenner, Steven E
- Fullerton, Stephanie M
- Radivojac, Predrag
- Rehm, Heidi L
- O'Donnell-Luria, Anne
2024
Link zum Volltext
Hepatology (Baltimore, Md.), 2023-12, Vol.78 (6), p.1966-1986
- Rinella, Mary E
- Lazarus, Jeffrey V
- Ratziu, Vlad
- Francque, Sven M
- Sanyal, Arun J
- Kanwal, Fasiha
- Romero, Diana
- Abdelmalek, Manal F
- Anstee, Quentin M
- Arab, Juan Pablo
- Arrese, Marco
- Bataller, Ramon
- Beuers, Ulrich
- Boursier, Jerome
- Bugianesi, Elisabetta
- Byrne, Christopher D
- Castro Narro, Graciela E
- Chowdhury, Abhijit
- Cortez-Pinto, Helena
- Cryer, Donna R
- Cusi, Kenneth
- El-Kassas, Mohamed
- Klein, Samuel
- Eskridge, Wayne
- Fan, Jiangao
- Gawrieh, Samer
- Guy, Cynthia D
- Harrison, Stephen A
- Kim, Seung Up
- Koot, Bart G
- Korenjak, Marko
- Kowdley, Kris V
- Lacaille, Florence
- Loomba, Rohit
- Mitchell-Thain, Robert
- Morgan, Timothy R
- Powell, Elisabeth E
- Roden, Michael
- Romero-Gómez, Manuel
- Silva, Marcelo
- Singh, Shivaram Prasad
- Sookoian, Silvia C
- Spearman, C Wendy
- Tiniakos, Dina
- Valenti, Luca
- Vos, Miriam B
- Wong, Vincent Wai-Sun
- Xanthakos, Stavra
- Yilmaz, Yusuf
- Younossi, Zobair
- Hobbs, Ansley
- Villota-Rivas, Marcela
- Newsome, Philip N
2023
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A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder
2020
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American journal of obstetrics and gynecology, 2022-01, Vol.226 (1), p.S57-S57
2022
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Human molecular genetics, 2024-01, Vol.33 (2), p.103-109
2024
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Obstetrics and gynecology (New York. 1953), 2023-04, Vol.141 (4), p.791
2023
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Nature communications, 2021-02, Vol.12 (1), p.1135-1135, Article 1135
- Oláhová, Monika
- Peter, Bradley
- Szilagyi, Zsolt
- Diaz-Maldonado, Hector
- Singh, Meenakshi
- Sommerville, Ewen W
- Blakely, Emma L
- Collier, Jack J
- Hoberg, Emily
- Stránecký, Viktor
- Hartmannová, Hana
- Bleyer, Anthony J
- McBride, Kim L
- Bowden, Sasigarn A
- Korandová, Zuzana
- Pecinová, Alena
- Ropers, Hans-Hilger
- Kahrizi, Kimia
- Najmabadi, Hossein
- Tarnopolsky, Mark A
- Brady, Lauren I
- Weaver, K Nicole
- Prada, Carlos E
- Õunap, Katrin
- Wojcik, Monica H
- Pajusalu, Sander
- Syeda, Safoora B
- Pais, Lynn
- Estrella, Elicia A
- Bruels, Christine C
- Kunkel, Louis M
- Kang, Peter B
- Bonnen, Penelope E
- Mráček, Tomáš
- Kmoch, Stanislav
- Gorman, Gráinne S
- Falkenberg, Maria
- Gustafsson, Claes M
- Taylor, Robert W
2021
Link zum Volltext
The Journal of clinical investigation, 2024-06, Vol.134 (12)
- Maio, Nunziata
- Orbach, Rotem
- Zaharieva, Irina T.
- Töpf, Ana
- Donkervoort, Sandra
- Munot, Pinki
- Mueller, Juliane
- Willis, Tracey
- Verma, Sumit
- Peric, Stojan
- Krishnakumar, Deepa
- Sudhakar, Sniya
- Foley, A. Reghan
- Silverstein, Sarah
- Douglas, Ganka
- Pais, Lynn
- DiTroia, Stephanie
- Grunseich, Christopher
- Hu, Ying
- Sewry, Caroline
- Sarkozy, Anna
- Straub, Volker
- Muntoni, Francesco
- Rouault, Tracey A.
- Bönnemann, Carsten G.
2024
Link zum Volltext
American journal of human genetics, 2020-04, Vol.106 (4), p.467-483
- Tan, Tiong Yang
- Sedmík, Jiří
- Fitzgerald, Mark P.
- Halevy, Rivka Sukenik
- Keegan, Liam P.
- Helbig, Ingo
- Basel-Salmon, Lina
- Cohen, Lior
- Straussberg, Rachel
- Chung, Wendy K.
- Helal, Mayada
- Maroofian, Reza
- Houlden, Henry
- Juusola, Jane
- Sadedin, Simon
- Pais, Lynn
- Howell, Katherine B.
- White, Susan M.
- Christodoulou, John
- O’Connell, Mary A.
2020
Link zum Volltext
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