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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...American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2768-2776
2018
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Annals of neurology, 2018-11, Vol.84 (5), p.766-780
- Metz, Kyle A.
- Teng, Xinchen
- Coppens, Isabelle
- Lamb, Heather M.
- Wagner, Bart E.
- Rosenfeld, Jill A.
- Chen, Xianghui
- Zhang, Yu
- Kim, Hee Jong
- Meadow, Michael E.
- Wang, Tim Sen
- Haberlandt, Edda D.
- Anderson, Glenn W.
- Leshinsky‐Silver, Esther
- Bi, Weimin
- Markello, Thomas C.
- Pratt, Marsha
- Makhseed, Nawal
- Garnica, Adolfo
- Danylchuk, Noelle R.
- Burrow, Thomas A.
- Jayakar, Parul
- McKnight, Dianalee
- Agadi, Satish
- Gbedawo, Hatha
- Stanley, Christine
- Alber, Michael
- Prehl, Isabelle
- Peariso, Katrina
- Ong, Min Tsui
- Mordekar, Santosh R.
- Parker, Michael J.
- Crooks, Daniel
- Agrawal, Pankaj B.
- Berry, Gerard T.
- Loddenkemper, Tobias
- Yang, Yaping
- Maegawa, Gustavo H. B.
- Aouacheria, Abdel
- Markle, Janet G.
- Wohlschlegel, James A.
- Hartman, Adam L.
- Hardwick, J. Marie
2018
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Human mutation, 2017-10, Vol.38 (10), p.1412-1420
2017
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Human mutation, 2012-04, Vol.33 (4), p.593-598
2012
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American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1374-1380
2015
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Human mutation, 2012-04, Vol.33 (4), p.614-626
2012
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American journal of medical genetics. Part A, 2010-06, Vol.152A (6), p.1474-1483
2010
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Annals of neurology, 2020-08, Vol.88 (2), p.332-347
- Foley, A. Reghan
- Zou, Yaqun
- Dunford, James E.
- Rooney, Jachinta
- Chandra, Goutam
- Xiong, Hui
- Straub, Volker
- Voit, Thomas
- Romero, Norma
- Donkervoort, Sandra
- Hu, Ying
- Markello, Thomas
- Horn, Adam
- Qebibo, Leila
- Dastgir, Jahannaz
- Meilleur, Katherine G.
- Finkel, Richard S.
- Fan, Yanbin
- Mamchaoui, Kamel
- Duguez, Stephanie
- Nelson, Isabelle
- Laporte, Jocelyn
- Santi, Mariarita
- Malfatti, Edoardo
- Maisonobe, Thierry
- Touraine, Philippe
- Hirano, Michio
- Hughes, Imelda
- Bushby, Kate
- Oppermann, Udo
- Böhm, Johann
- Jaiswal, Jyoti K.
- Stojkovic, Tanya
- Bönnemann, Carsten G.
2020
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Epilepsia (Copenhagen), 2019-03, Vol.60 (3), p.406-418
- Kelly, McKenna
- Park, Meredith
- Mihalek, Ivana
- Pérez‐Palma, Eduardo
- Anselm, Irina
- Briere, Lauren C.
- High, Frances A.
- Sweetser, David A.
- Allard, Patrick
- Ashley, Euan A.
- Bacino, Carlos A.
- Baker, Eva
- Barseghyan, Hayk
- Batzli, Gabriel F.
- Behnam, Babak
- Bellen, Hugo J.
- Bernstein, Jonathan A.
- Bican, Anna
- Bostwick, Bret L.
- Brush, Matthew
- Burke, Elizabeth A.
- Burrage, Lindsay C.
- Butte, Manish J.
- Clark, Gary D.
- Colley, Heather A.
- Cooper, Cynthia M.
- Davids, Mariska
- Dell’Angelica, Esteban C.
- Dorrani, Naghmeh
- Douine, Emilie D.
- Emrick, Lisa T.
- Fairbrother, Laura
- Fernandez, Liliana
- Ferreira, Carlos
- Fieg, Elizabeth L.
- Fisher, Paul G.
- Friedman, Noah D.
- Gahl, William A.
- Gourdine, Jean‐Philippe F.
- Groden, Catherine A.
- Gropman, Andrea L.
- Haendel, Melissa
- Hom, Jason
- Howerton, Ellen M.
- Jamal, Fariha
- Jiang, Yong‐hui
- Johnston, Jean M.
- Jones, Angela L.
- Karaviti, Lefkothea
- Koeller, David M.
- Kohane, Isaac S.
- Koziura, Mary
- Lalani, Seema R.
- Lazar, Jozef
- Levy, Shawn E.
- Lincoln, Sharyn A.
- Maas, Richard L.
- Macnamara, Ellen F.
- MacRae, Calum A.
- Maduro, Valerie V.
- Majcherska, Marta M.
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Manolio, Teri A.
- Markello, Thomas C.
- Marom, Ronit
- Martínez‐Agosto, Julian A.
- May, Thomas
- Morimoto, Marie
- Mulvihill, John J.
- Murphy, Jennifer L.
- Nelson, Stan F.
- Newman, John H.
- Novacic, Donna
- Orange, Jordan S.
- Potocki, Lorraine
- Reuter, Chloe M.
- Rives, Lynette
- Robertson, Amy K.
- Rodan, Lance H.
- Sampson, Jacinda B.
- Samson, Susan L.
- Schoch, Kelly
- Silverman, Edwin K.
- Sinsheimer, Janet S.
- Smith, Kevin S.
- Spillmann, Rebecca C.
- Stong, Nicholas
- Sullivan, Jennifer A.
- Waggott, Daryl M.
- Walsh, Chris A.
- Wangler, Michael F.
- Ward, Patricia A.
- Waters, Katrina M.
- Westerfield, Monte
- Wheeler, Matthew T.
- Wise, Anastasia L.
- Worthey, Elizabeth A.
- Yoon, Amanda J.
- Zastrow, Diane B.
2019
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Clinical genetics, 2017-05, Vol.91 (5), p.739-747
2017
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Human mutation, 2019-08, Vol.40 (8), p.1115-1126
- Schoch, Kelly
- Sullivan, Jennifer
- Kranz, Peter
- Kontrogianni‐Konstantopoulos, Aikaterini
- Adams, David R.
- Allard, Patrick
- Balasubramanyam, Ashok
- Barbouth, Deborah
- Bellen, Hugo J.
- Bernstein, Jonathan A.
- Bick, David P.
- Bonner, Devon
- Boone, Braden E.
- Brown, Donna M.
- Brush, Matthew
- Burke, Elizabeth A.
- Butte, Manish J.
- Chang, Ta Chen Peter
- Clark, Gary D.
- Cobban, Laurel A.
- Cogan, Joy D.
- Cope, Heidi
- Craigen, William J.
- Dasari, Surendra
- Davids, Mariska
- Dhar, Shweta U.
- Dorrani, Naghmeh
- Draper, David D.
- Dries, Annika M.
- Duncan, Laura
- Emrick, Lisa T.
- Eng, Christine M.
- Esteves, Cecilia
- Estwick, Tyra
- Fernandez, Liliana
- Fieg, Elizabeth L.
- Forghani, Irman
- Godfrey, Rena A.
- Gourdine, Jean‐Philippe F.
- Gropman, Andrea L.
- Haendel, Melissa
- Hanchard, Neil A.
- High, Frances
- Hom, Jason
- Huang, Alden
- Isasi, Rosario
- Kelley, Emily G.
- Lanpher, Brendan C.
- Lanza, Ian R.
- Lau, C. Christopher
- LeBlanc, Kimberly
- Lee, Hane
- Levitt, Roy
- Lewis, Richard A.
- Liu, Pengfei
- Maas, Richard L.
- Macnamara, Ellen F.
- Majcherska, Marta M.
- Malicdan, May Christine V.
- Manolio, Teri A.
- Markello, Thomas C.
- Marom, Ronit
- Martínez‐Agosto, Julian A.
- May, Thomas
- McCauley, Jacob
- McConkie‐Rosell, Allyn
- McCormack, Colleen E.
- Might, Matthew
- Murdock, David R.
- Nath, Avi
- Nelson, Stan F.
- Newberry, J. Scott
- Pak, Stephen
- Pallais, J. Carl
- Parker, Neil H.
- Potocki, Lorraine
- Pusey, Barbara N.
- Renteria, Genecee
- Robertson, Amy K.
- Sacco, Ralph
- Sampson, Jacinda B.
- Schaechter, Judy
- Schedl, Timothy
- Silverman, Edwin K.
- Stoler, Joan M.
- Sullivan, Jennifer A.
- Sweetser, David A.
- Tekin, Mustafa
- Thorson, Willa
- Toro, Camilo
- Tran, Alyssa A.
- Urv, Tiina K.
- Walley, Nicole M.
- Walker, Melissa
- Waters, Katrina M.
- Wegner, Daniel
- Wheeler, Matthew T.
- Yamamoto, Shinya
- Yang, John
- Yoon, Amanda J.
2019
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American journal of medical genetics. Part A, 2024-06, Vol.194 (6), p.e63556-n/a
- Forghani, Irman
- Adam, Margaret
- Azamian, Mahshid S.
- Baker, Eva
- Baldridge, Dustin
- Bale, Jim
- Beck, Anita
- Berg‐Rood, Beverly
- Berry, Gerard T.
- Bican, Anna
- Boyd, Brenna
- Briere, Lauren C.
- Burke, Elizabeth A.
- Burrage, Lindsay C.
- Byers, Peter
- Carey, John
- Chang, Ta Chen Peter
- Cogan, Joy D.
- Colley, Heather A.
- D'Souza, Precilla
- Dasari, Surendra
- Dell'Angelica, Esteban C.
- Duncan, Laura
- Eckstein, David J.
- Emrick, Lisa T.
- Eng, Christine M.
- Esteves, Cecilia
- Fernandez, Liliana
- Fieg, Elizabeth L.
- Gochuico, Bernadette
- Grajewski, Alana
- Hahn, Sihoun
- Hamid, Rizwan
- High, Frances
- Hing, Anne
- Hisama, Fuki M.
- Holm, Ingrid A.
- Huang, Yong
- Jamal, Fariha
- Jayadev, Suman
- Kohler, Jennefer N.
- Krakow, Deborah
- Kravets, Elijah
- Koziura, Mary
- Lam, Byron
- Lam, Christina
- Lanza, Ian R.
- LeBlanc, Kimberly
- Lee, Brendan H.
- Lee, Hane
- Levitt, Roy
- Liu, Pengfei
- Maas, Richard L.
- Macnamara, Ellen F.
- Maduro, Valerie V.
- Majcherska, Marta M.
- Manolio, Teri A.
- Marth, Gabor
- Martínez‐Agosto, Julian A.
- Marwaha, Shruti
- McCauley, Jacob
- McConkie‐Rosell, Allyn
- McGee, Elisabeth
- Might, Matthew
- Mirzaa, Ghayda
- Moretti, Paolo M.
- Mosbrook‐Davis, Deborah
- Murdock, David R.
- Nieves‐Rodriguez, Shirley
- Parker, Neil H.
- Phillips, John A.
- Power, Bradley
- Pusey, Barbara N.
- Quinlan, Aaron
- Raskind, Wendy
- Sacco, Ralph
- Sampson, Jacinda B.
- Saporta, Mario
- Shin, Jimann
- Silverman, Edwin K.
- Sinsheimer, Janet S.
- Solem, Emily
- Stoler, Joan M.
- Sun, Angela
- Tabor, Holly K.
- Tan, Amelia L. M.
- Telischi, Fred
- Tifft, Cynthia J.
- Toro, Camilo
- Tucker, Brianna M.
- Vogel, Tiphanie P.
- Wambach, Jennifer
- Wang, Lee‐kai
- Wegner, Daniel
- Wenger, Tara
- Westerfield, Monte
- Wolfe, Lynne A.
- Zein, Wadih
- Zuchner, Stephan
2024
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American journal of medical genetics. Part A, 2023-07, Vol.191 (7), p.1911-1916
- Bivona, Stephanie
- Peart, LéShon
- Guo, Shengru
- Adam, Margaret
- Agrawal, Pankaj B.
- Alvey, Justin
- Balasubramanyam, Ashok
- Bayrak‐Toydemir, Pinar
- Beck, Anita
- Bohnsack, John
- Bonner, Devon
- Botto, Lorenzo
- Butte, Manish J.
- Chanprasert, Sirisak
- Clark, Gary D.
- Coggins, Matthew
- Cope, Heidi
- Craigen, William J.
- Dorrani, Naghmeh
- Doss, Argenia L.
- Douine, Emilie D.
- Earl, Dawn
- Eckstein, David J.
- Emrick, Lisa T.
- Ferreira, Carlos
- Fisher, Paul G.
- Gahl, William A.
- Goldman, Alica M.
- Goldstein, David B.
- Grajewski, Alana
- Groden, Catherine A.
- Hamid, Rizwan
- Hanchard, Neil A.
- Hassey, Kelly
- Hayes, Nichole
- Horike‐Pyne, Martha
- Huang, Alden
- Huang, Yong
- Huryn, Laryssa
- Isasi, Rosario
- Jarvik, Gail P.
- Kennedy, Jennifer
- Kiley, Dana
- Kohane, Isaac S.
- Krakow, Deborah
- Krasnewich, Donna M.
- Kravets, Elijah
- Korrick, Susan
- Koziura, Mary
- Krier, Joel B.
- Lalani, Seema R.
- Lam, Christina
- LaMoure, Grace L.
- Lee, Brendan H.
- Lincoln, Sharyn A.
- Loo, Sandra K.
- Maduro, Valerie V.
- Majcherska, Marta M.
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Mao, Rong
- Maravilla, Kenneth
- Marom, Ronit
- Martin, Beth A.
- Marwaha, Shruti
- Mefford, Heather
- Morava, Eva
- Mulvihill, John J.
- Nakano‐Okuno, Mariko
- Nath, Avi
- Nickerson, Deborah
- Nieves‐Rodriguez, Shirley
- Pallais, J. Carl
- Raskind, Wendy
- Renteria, Genecee
- Ruzhnikov, Maura
- Samson, Susan L.
- Shashi, Vandana
- Silverman, Edwin K.
- Sisco, Kathy
- Solnica‐Krezel, Lilianna
- Solomon, Ben
- Sun, Angela
- Sweetser, David A.
- Tan, Queenie K.‐G.
- Thorson, Willa
- Thurm, Audrey
- Tran, Alyssa A.
- Vanderver, Adeline
- Velinder, Matt
- Viskochil, Dave
- Wallace, Stephanie
- Walsh, Chris A.
- Wambach, Jennifer
- Wan, Jijun
- Ward, Patricia A.
- Wener, Mark
- Wenger, Tara
- Yang, John
- Yousef, Muhammad
2023
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Human mutation, 2017-10, Vol.38 (10), p.i-i
2017
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Human mutation, 2017-10, Vol.38 (10), p.1412-1420
2017
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Human mutation, 2017-07, Vol.38 (10), p.1412-1420
2017
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American journal of medical genetics. Part A, 2010, Vol.152 (6), p.1474-1483
2010
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The Journal of rural health, 2003, Vol.19 (4), p.433-438
2003
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Clinical genetics, 1995-10, Vol.48 (4), p.195-198
1995
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