| 137682 |
Ryan |
MT |
2 |
22019594
| 2011 |
NA |
| 137682 |
Okazaki |
Y |
1 |
41399147
| 2026 |
Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan. |
| 137682 |
Leuzzi |
V |
1 |
38685873
| 2024 |
Department of Human Neuroscience, Sapienza University, Rome, Italy. |
| 137682 |
Pagliarini |
DJ |
1 |
38720117
| 2024 |
Department of Cell Biology and Physiology, Washington University School of Medicine in St. Louis, St. Louis, MO, USA. |
| 137682 |
Bredrup |
C |
1 |
36776133
| 2023 |
Department of Clinical Medicine, University of Bergen, Norway. |
| 137682 |
Du |
Y |
1 |
35237031
| 2022 |
Department of Neurology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong, People's Republic of China. |
| 137682 |
Zhu |
Q |
1 |
32598174
| 2021 |
Department of Anesthesiology, Ruijin Hospital Affiliated with Shanghai Jiao Tong University School of Medicine, Shanghai, China. |
| 137682 |
Malicdan |
MCV |
1 |
33097395
| 2020 |
NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. |
| 137682 |
Pérez-Dueñas |
B |
1 |
30642748
| 2019 |
Department of Child Neurology, Hospital Vall d'Hebron - Institut de Recerca VHIR , Barcelona, Spain; CIBERER, Centro de Investigaciones Biom'edicas en Red de Enfermedades Raras, Madrid, Spain; Faculty of Medicine, Universitat Aut'onoma de Barcelona, |
| 137682 |
Ghezzi |
D |
1 |
29531337
| 2018 |
Molecular Neurogenetics, Foundation IRCCS Neurological Institute Besta, Milan, Italy. |
| 137682 |
Lemire |
BD |
1 |
28476317
| 2017 |
Department of Biochemistry, University of Alberta, Edmonton, Alberta T6G2H7, Canada. |
| 137682 |
Deng |
HW |
1 |
28870582
| 2017 |
Department of Endocrinology and Metabolism, The Third Affiliated Hospital of Southern Medical University, Guangzhou 510630, PR China; Center for Bioinformatics and Genomics, Department of Global Biostatistics and Data Science, School of Public Health |
| 137682 |
Frullanti |
E |
1 |
27623250
| 2016 |
Medical Genetics, University of Siena, Siena, Italy. |
| 137682 |
Kmoch |
S |
1 |
27466185
| 2016 |
Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, 120 00 Prague 2, Czech Republic |
| 137682 |
Guy |
J |
1 |
25613946
| 2015 |
Bascom Palmer Eye Institute, University of Miami, Miller School of Medicine, Miami, Florida, United States. |
| 137682 |
Jenster |
G |
1 |
24488012
| 2015 |
Department of Urology, Josephine Nefkens Institute, Erasmus University Medical Center, Rotterdam, The Netherlands. |
| 137682 |
Amouyel |
P |
1 |
24162737
| 2013 |
NA |
| 137682 |
Bellen |
HJ |
1 |
23509070
| 2013 |
NA |
| 137682 |
Nijtmans |
LG |
1 |
19463981
| 2009 |
NA |