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Items: 1 to 20 of 261

1.
Vanessa Zanette, Aurelio Reyes, Mark Johnson, Daniel do Valle, Alan J. Robinson, Vaneisse Monteiro, Bruno Augusto Telles, Ricardo L.R. Souza, Mara L S.F. Santos, Cristiane Benincá, Massimo Zeviani
Neurol Genet. 2020 Dec; 6(6): e521. Published online 2020 Oct 7. doi: 10.1212/NXG.0000000000000521
PMCID:
PMC7577545
2.
Noman Ahmad, Mrouge Mohamed Sobaihi, Mona Al-Jabri, Nabil Abdulrahman Al –Esaei, Abdullah M. Al Zaydi
Int J Pediatr Adolesc Med. 2018 Jun; 5(2): 78–81. Published online 2018 Jun 7. doi: 10.1016/j.ijpam.2018.05.001
PMCID:
PMC6363249
3.
Danique R.M. Vlaskamp, Benjamin J. Shaw, Rosemary Burgess, Davide Mei, Martino Montomoli, Han Xie, Candace T. Myers, Mark F. Bennett, Wenshu XiangWei, Danielle Williams, Saskia M. Maas, Alice S. Brooks, Grazia M.S. Mancini, Ingrid M.B.H. van de Laar, Johanna M. van Hagen, Tyson L. Ware, Richard I. Webster, Stephen Malone, Samuel F. Berkovic, Renate M. Kalnins, Federico Sicca, G. Christoph Korenke, Conny M.A. van Ravenswaaij-Arts, Michael S. Hildebrand, Heather C. Mefford, Yuwu Jiang, Renzo Guerrini, Ingrid E. Scheffer
Neurology. 2019 Jan 8; 92(2): e96–e107. doi: 10.1212/WNL.0000000000006729
PMCID:
PMC6340340
4.
Zafar Ali, Shumaila Zulfiqar, Joakim Klar, Johan Wikström, Farid Ullah, Ayaz Khan, Uzma Abdullah, Shahid Baig, Niklas Dahl
BMC Med Genet. 2017; 18: 144. Published online 2017 Dec 6. doi: 10.1186/s12881-017-0504-6
PMCID:
PMC5718074
5.
M. R. Nihill, D. S. Wilson, K. Hugh-Jones
Arch Dis Child. 1970 Feb; 45(239): 122–129. doi: 10.1136/adc.45.239.122
PMCID:
PMC2020423
6.
陈 施梦, 邓 小鹿, 熊 娟, 陈 柏谕, 何 芳, 杨 丽芬, 羊 蠡, 彭 镜, 尹 飞
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Feb 28; 47(2): 265–270. Chinese. doi: 10.11817/j.issn.1672-7347.2022.210070
PMCID:
PMC10930526
7.
Ameya S. Walimbe, Keren Machol, Stephen F. Kralik, Elizabeth A. Mizerik, Yoel Gofin, Mir Reza Bekheirnia, Charul Gijavanekar, Sarah H. Elsea, Lisa T. Emrick, Fernando Scaglia
BMC Neurol. 2024; 24: 87. Published online 2024 Mar 4. doi: 10.1186/s12883-024-03571-w
PMCID:
PMC10910770
8.
Syed M. Ali, Dua A. AlMasri, Carlos E. Prada, Doris Lin, Thomas M. Bosley, Igor Kozak
Mol Genet Genomic Med. 2024 Jan; 12(1): e2329. Published online 2023 Nov 28. doi: 10.1002/mgg3.2329
PMCID:
PMC10767677
9.
Amy Wiegand, Rama Kastury, Arpita Neogi, Arya Mani, Allen Bale, Allison Cox
Cold Spring Harb Mol Case Stud. 2023 Jun; 9(3): a006281. doi: 10.1101/mcs.a006281
PMCID:
PMC10393184
10.
Marketa Vlckova, Darina Prchalova, Pavel Zimmermann, Jana Haberlova, Sarka Bendova, Veronika Moslerova, Viktor Stranecky, Zdenek Sedlacek, Miroslava Hancarova
Mol Genet Genomic Med. 2023 Jun; 11(6): e2154. Published online 2023 Feb 24. doi: 10.1002/mgg3.2154
PMCID:
PMC10265034
11.
Magdalena Mroczek, Stanley Iyadurai
Int J Mol Sci. 2023 Feb; 24(3): 2260. Published online 2023 Jan 23. doi: 10.3390/ijms24032260
PMCID:
PMC9917016
12.
Piero Pavone, Xena Giada Pappalardo, Naira Mustafa, Raffaele Falsaperla, Simona Domenica Marino, Giovanni Corsello, Sebastiano Bianca, Enrico Parano, Martino Ruggieri
Neurol Sci. 2022; 43(11): 6529–6538. Published online 2022 Jul 9. doi: 10.1007/s10072-022-06247-w
PMCID:
PMC9616775
13.
Naglaa M. Kamal, AlaaEddin M. Alzeky, Maher R. Omair, Ruwayd A. Attar, Abdullah M. Alotaibi, Abdullah Safar, Nawal S. Alosaimi, Sara A. S. Abosabie
Ital J Pediatr. 2022; 48: 107. Published online 2022 Jun 23. doi: 10.1186/s13052-022-01301-x
PMCID:
PMC9229910
14.
Benjamin J. Grosso, Audra A. Kramer, Sidharth Tyagi, Daniel F. Bennett, Cynthia J. Tifft, Precilla D’Souza, Michael F. Wangler, Ellen F. Macnamara, Ulises Meza, Roger A. Bannister
Sci Rep. 2022; 12: 9186. Published online 2022 Jun 2. doi: 10.1038/s41598-022-12789-y
PMCID:
PMC9163077
15.
Jesse M. Hunter, Lauren J. Massingham, Kandamurugu Manickam, Dennis Bartholomew, Rachel K. Williamson, Jennifer L. Schwab, Mohammad Marhabaie, Amy Siemon, Emily de los Reyes, Shalini C. Reshmi, Catherine E. Cottrell, Richard K. Wilson, Daniel C. Koboldt
Cold Spring Harb Mol Case Stud. 2022 Feb; 8(2): a006180. doi: 10.1101/mcs.a006180
PMCID:
PMC8958914
16.
Swetha Ramadesikan, Scott Hickey, Emily De Los Reyes, Anup D. Patel, Samuel J. Franklin, Patrick Brennan, Erin Crist, Kristy Lee, Peter White, Kim L. McBride, Daniel C. Koboldt, Richard K. Wilson
Cold Spring Harb Mol Case Stud. 2022 Feb; 8(2): a006165. doi: 10.1101/mcs.a006165
PMCID:
PMC8958912
17.
Marta Martín-Martín, Jonathan Cortés-Martín, Maria Isabel Tovar-Gálvez, Juan Carlos Sánchez-García, Lourdes Díaz-Rodríguez, Raquel Rodríguez-Blanque
Int J Environ Res Public Health. 2022 Feb; 19(3): 1870. Published online 2022 Feb 7. doi: 10.3390/ijerph19031870
PMCID:
PMC8835098
18.
Janelle Geist Hauserman, Janis Stavusis, Humberto C. Joca, Joel C. Robinett, Laurin Hanft, Jack Vandermeulen, Runchen Zhao, Joseph P. Stains, Konstantinos Konstantopoulos, Kerry S. McDonald, Christopher Ward, Aikaterini Kontrogianni-Konstantopoulos
JCI Insight. 2021 Oct 8; 6(19): e147612. Published online 2021 Oct 8. doi: 10.1172/jci.insight.147612
PMCID:
PMC8525646
19.
Lauren C. Briere, Melissa A. Walker, Frances A. High, Cynthia Cooper, Cassandra A. Rogers, Christine J. Callahan, Ryosuke Ishimura, Yoshinobu Ichimura, Paul A. Caruso, Nutan Sharma, Elly Brokamp, Mary E. Koziura, Shekeeb S. Mohammad, Russell C. Dale, Lisa G. Riley, Undiagnosed Diseases Network, John A. Phillips, Masaaki Komatsu, David A. Sweetser
Cold Spring Harb Mol Case Stud. 2021 Jun; 7(3): a005827. doi: 10.1101/mcs.a005827
PMCID:
PMC8208045
20.
Mallory J. Owen, Jerica Lenberg, Annette Feigenbaum, Jeffrey Gold, Kevin Chau, Zaira Bezares-Orin, Yan Ding, Shimul Chowdhury, Stephen F. Kingsmore
Cold Spring Harb Mol Case Stud. 2021 Jun; 7(3): a006091. doi: 10.1101/mcs.a006091
PMCID:
PMC8208044

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