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Orphanet journal of rare diseases, 2018-07, Vol.13 (1), p.116-116, Article 116
2018
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Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group
2017
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Molecular genetics and metabolism, 2016-03, Vol.117 (3), p.313-321
2016
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Orphanet journal of rare diseases, 2019-08, Vol.14 (1), p.201-201, Article 201
2019
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American journal of medical genetics. Part A, 2021-05, Vol.185 (5), p.1515-1518
2021
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EMBO molecular medicine, 2020-11, Vol.12 (11), p.e11739-n/a
- Bosakova, Michaela
- Abraham, Sara P
- Nita, Alexandru
- Hruba, Eva
- Buchtova, Marcela
- Taylor, S Paige
- Duran, Ivan
- Martin, Jorge
- Svozilova, Katerina
- Barta, Tomas
- Varecha, Miroslav
- Balek, Lukas
- Kohoutek, Jiri
- Radaszkiewicz, Tomasz
- Pusapati, Ganesh V
- Bryja, Vitezslav
- Rush, Eric T
- Thiffault, Isabelle
- Nickerson, Deborah A
- Bamshad, Michael J
- Rohatgi, Rajat
- Cohn, Daniel H
- Krakow, Deborah
- Krejci, Pavel
2020
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SAGE open medicine, 2022-01, Vol.10, p.20503121221146074-20503121221146074
2022
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Molecular genetics and metabolism reports, 2016-09, Vol.8 (C), p.8-12
2016
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The journal of clinical endocrinology and metabolism, 2023-07, Vol.108 (7), p.1787-1796
2023
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AACE clinical case reports, 2019-03, Vol.5 (2), p.e138-e141
2019
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Molecular genetics and metabolism, 2017-09, Vol.122 (1-2), p.4-17
2017
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Molecular genetics and metabolism, 2021-05, Vol.133 (1), p.113-121
2021
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Journal of bone and mineral research, 2022-02, Vol.37 (2), p.202-214
2022
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Journal of pediatric orthopaedics, 2018-07, Vol.38 (6), p.331-336
2018
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Journal of clinical psychology in medical settings, 2024-05
2024
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Bone (New York, N.Y.), 2020-08, Vol.137, p.115413-115413, Article 115413
2020
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American journal of human genetics, 2019-09, Vol.105 (3), p.631-639
- Fischer-Zirnsak, Björn
- Segebrecht, Lara
- Schubach, Max
- Charles, Perrine
- Alderman, Emily
- Brown, Kathleen
- Cadieux-Dion, Maxime
- Cartwright, Tracy
- Chen, Yanmin
- Costin, Carrie
- Fehr, Sarah
- Fitzgerald, Keely M.
- Fleming, Emily
- Foss, Kimberly
- Ha, Thoa
- Hildebrand, Gabriele
- Horn, Denise
- Liu, Shuxi
- Marco, Elysa J.
- McDonald, Marie
- McWalter, Kirsty
- Race, Simone
- Rush, Eric T.
- Si, Yue
- Saunders, Carol
- Slavotinek, Anne
- Stockler-Ipsiroglu, Sylvia
- Telegrafi, Aida
- Thiffault, Isabelle
- Torti, Erin
- Tsai, Anne Chun-hui
- Wang, Xin
- Zafar, Muhammad
- Keren, Boris
- Kornak, Uwe
- Boerkoel, Cornelius F.
- Mirzaa, Ghayda
- Ehmke, Nadja
2019
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American journal of human genetics, 2024-04, Vol.111 (4), p.778-790
- Mullegama, Sureni V.
- Kiernan, Kaitlyn A.
- Torti, Erin
- Pavlovsky, Ethan
- Tilton, Nicholas
- Sekula, Austin
- Gao, Hua
- Alaimo, Joseph T.
- Engleman, Kendra
- Rush, Eric T.
- Blocker, Karli
- Dipple, Katrina M.
- Fettig, Veronica M.
- Hare, Heather
- Glass, Ian
- Grange, Dorothy K.
- Griffin, Michael
- Phornphutkul, Chanika
- Massingham, Lauren
- Mehta, Lakshmi
- Miller, Danny E.
- Thies, Jenny
- Merritt, J Lawrence
- Muller, Eric
- Osmond, Matthew
- Sawyer, Sarah L.
- Slaugh, Rachel
- Hickey, Rachel E.
- Wolf, Barry
- Choudhary, Sanjeev
- Simonović, Miljan
- Zhang, Yueqing
- Palculict, Timothy Blake
- Telegrafi, Aida
- Carere, Deanna Alexis
- Wentzensen, Ingrid M.
- Morrow, Michelle M.
- Monaghan, Kristin G.
- Yang, Jun
- Juusola, Jane
2024
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Bone (New York, N.Y.), 2024-01, Vol.178, p.116947-116947, Article 116947
- Farman, Mariam R.
- Rehder, Catherine
- Malli, Theodora
- Rockman-Greenberg, Cheryl
- Dahir, Kathryn
- Martos-Moreno, Gabriel Ángel
- Linglart, Agnès
- Ozono, Keiichi
- Seefried, Lothar
- del Angel, Guillermo
- Webersinke, Gerald
- Barbazza, Francesca
- John, Lisa K.
- Delana Mudiyanselage, Sewmi M.A.
- Högler, Florian
- Nading, Erica Burner
- Huggins, Erin
- Rush, Eric T.
- El-Gazzar, Ahmed
- Kishnani, Priya S.
- Högler, Wolfgang
2024
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Molecular genetics and metabolism reports, 2016-06, Vol.7 (C), p.94-95
2016
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Osteoporosis international, 2024-03, Vol.35 (3), p.431-438
- Khan, Aliya A.
- Brandi, Maria Luisa
- Rush, Eric T.
- Ali, Dalal S.
- Al-Alwani, Hatim
- Almonaei, Khulod
- Alsarraf, Farah
- Bacrot, Severine
- Dahir, Kathryn M.
- Dandurand, Karel
- Deal, Chad
- Ferrari, Serge Livio
- Giusti, Francesca
- Guyatt, Gordon
- Hatcher, Erin
- Ing, Steven W.
- Javaid, Muhammad Kassim
- Khan, Sarah
- Kocijan, Roland
- Linglart, Agnes
- M’Hiri, Iman
- Marini, Francesca
- Nunes, Mark E.
- Rockman-Greenberg, Cheryl
- Roux, Christian
- Seefried, Lothar
- Simmons, Jill H.
- Starling, Susan R.
- Ward, Leanne M.
- Yao, Liang
- Brignardello-Petersen, Romina
- Lewiecki, E. Michael
2024
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American journal of human genetics, 2024-06, Vol.111 (6), p.1240-1240
- Mullegama, Sureni V.
- Kiernan, Kaitlyn A.
- Torti, Erin
- Pavlovsky, Ethan
- Tilton, Nicholas
- Sekula, Austin
- Gao, Hua
- Alaimo, Joseph T.
- Engleman, Kendra
- Rush, Eric T.
- Blocker, Karli
- Dipple, Katrina M.
- Fettig, Veronica M.
- Hare, Heather
- Glass, Ian
- Grange, Dorothy K.
- Griffin, Michael
- Phornphutkul, Chanika
- Massingham, Lauren
- Mehta, Lakshmi
- Miller, Danny E.
- Thies, Jenny
- Merritt, J Lawrence
- Muller, Eric
- Osmond, Matthew
- Sawyer, Sarah L.
- Slaugh, Rachel
- Hickey, Rachel E.
- Wolf, Barry
- Choudhary, Sanjeev
- Simonović, Miljan
- Zhang, Yueqing
- Palculict, Timothy Blake
- Telegrafi, Aida
- Carere, Deanna Alexis
- Wentzensen, Ingrid M.
- Morrow, Michelle M.
- Monaghan, Kristin G.
- Juusola, Jane
- Yang, Jun
2024
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Osteoporosis international, 2024-03, Vol.35 (3), p.439-449
- Brandi, Maria Luisa
- Khan, Aliya A.
- Rush, Eric T.
- Ali, Dalal S.
- Al-Alwani, Hatim
- Almonaei, Khulod
- Alsarraf, Farah
- Bacrot, Severine
- Dahir, Kathryn M.
- Dandurand, Karel
- Deal, Chad
- Ferrari, Serge Livio
- Giusti, Francesca
- Guyatt, Gordon
- Hatcher, Erin
- Ing, Steven W.
- Javaid, Muhammad Kassim
- Khan, Sarah
- Kocijan, Roland
- Lewiecki, E. Michael
- Linglart, Agnes
- M’Hiri, Iman
- Marini, Francesca
- Nunes, Mark E.
- Rockman-Greenberg, Cheryl
- Seefried, Lothar
- Simmons, Jill H.
- Starling, Susan R.
- Ward, Leanne M.
- Yao, Liang
- Brignardello-Petersen, Romina
- Roux, Christian
2024
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The journal of clinical endocrinology and metabolism, 2016-11, Vol.101 (11), p.4283-4289
2016
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Osteoporosis international, 2024-05, Vol.35 (5), p.933-934
- Khan, Aliya A.
- Brandi, Maria Luisa
- Rush, Eric T.
- Ali, Dalal S.
- Al-Alwani, Hatim
- Almonaei, Khulod
- Alsarraf, Farah
- Bacrot, Severine
- Dahir, Kathryn M.
- Dandurand, Karel
- Deal, Chad
- Ferrari, Serge Livio
- Giusti, Francesca
- Guyatt, Gordon
- Hatcher, Erin
- Ing, Steven W.
- Javaid, Muhammad Kassim
- Khan, Sarah
- Kocijan, Roland
- Linglart, Agnes
- M’Hiri, Iman
- Marini, Francesca
- Nunes, Mark E.
- Rockman-Greenberg, Cheryl
- Roux, Christian
- Seefried, Lothar
- Simmons, Jill H.
- Starling, Susan R.
- Ward, Leanne M.
- Yao, Liang
- Brignardello-Petersen, Romina
- Michael Lewiecki, E.
2024
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