| 5373 |
Pérez |
B |
5 |
35789514
| 2022 |
Centro de Diagn'ostico de Enfermedades Moleculares, Centro de Biolog'ia Molecular-SO UAM-CSIC, Universidad Aut'onoma de Madrid, Centro de Investigaci'on Biom'edica en Red de Enfermedades Raras CIBERER , Instituto de Investigaci'on Sanitaria IdiPAZ, |
| 5373 |
Matthijs |
G |
5 |
17307006
| 2007 |
NA |
| 5373 |
Seta |
N |
3 |
15844218
| 2005 |
NA |
| 5373 |
Serrano |
M |
2 |
38129426
| 2023 |
Neuropediatric Department, Hospital Sant Joan de D'eu, Barcelona, Spain. |
| 5373 |
Cubellis |
MV |
2 |
26488408
| 2015 |
Dipartimento di Biologia, Universit`a Federico II, Napoli, Italy. |
| 5373 |
Grünewald |
S |
2 |
23430200
| 2013 |
NA |
| 5373 |
Marquardt |
T |
2 |
12905014
| 2003 |
NA |
| 5373 |
Freeze |
HH |
2 |
11875054
| 2002 |
NA |
| 5373 |
Martinsson |
T |
2 |
11058896
| 2000 |
NA |
| 5373 |
Winchester |
B |
2 |
11058895
| 2000 |
NA |
| 5373 |
Schwartz |
M |
2 |
10602363
| 1999 |
NA |
| 5373 |
Kozicz |
T |
1 |
38430517
| 2024 |
Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA; D |
| 5373 |
Hu |
L |
1 |
36743691
| 2023 |
The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China. |
| 5373 |
Jones |
KDJ |
1 |
36773065
| 2023 |
Department of Paediatric Gastroenterology & Nutrition, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. |
| 5373 |
Heidet |
L |
1 |
33580824
| 2021 |
Laboratory of Hereditary Kidney Diseases, Universit'e de Paris, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France. |
| 5373 |
Barone |
R |
1 |
33619652
| 2021 |
Child Neurology and Psychiatry Section, Department of Clinical and Experimental Medicine, University of Catania, Policlinico, Via Santa Sofia 78, 95123, Catania, Italy. |
| 5373 |
Witters |
P |
1 |
34828263
| 2021 |
Center for Metabolic Diseases, Department of Paediatrics, University Hospitals Leuven, B3000 Leuven, Belgium. |
| 5373 |
Iancu |
D |
1 |
33811480
| 2021 |
Department Renal Medicine, University College London, London, UK. |
| 5373 |
Tokatlı |
A |
1 |
31981409
| 2020 |
Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism, Hacettepe University, Ankara, Turkey. |
| 5373 |
Albiach Mesado |
V |
1 |
32841164
| 2020 |
Pediatric Endocrinology, Hospital Universitari i Politecnic La Fe, Valencia, Spain. |
| 5373 |
Maftei |
R |
1 |
32630370
| 2020 |
Origyn Fertility Center, Palace Street, no 3C, 70032 Iasi, Romania. |
| 5373 |
Xiao |
H |
1 |
31902100
| 2020 |
Institute of Reproductive & Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, 410013, China. |
| 5373 |
Seidah |
NG |
1 |
31391289
| 2020 |
Department of Biochemical Neuroendocrinology, Clinical Research Institute of Montreal, Montreal, Quebec, Canada |
| 5373 |
Luo |
X |
1 |
30950015
| 2019 |
NA |
| 5373 |
Schlondorff |
JS |
1 |
31266804
| 2019 |
Division of Nephrology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02215 |
| 5373 |
Rajkovic |
A |
1 |
30406445
| 2019 |
Department of Pathology, University of California, San Francisco, CA, 94143-0794, USA. |
| 5373 |
Andreotti |
G |
1 |
30061496
| 2018 |
Istituto di Chimica Biomolecolare-CNR, 80078 Pozzuoli, Italy. |
| 5373 |
Hamzeh |
AR |
1 |
28940310
| 2018 |
Centre for Arab Genomic Studies, Dubai, UAE. |
| 5373 |
Bockenhauer |
D |
1 |
28373276
| 2017 |
University College London Centre for Nephrology, University College London, London, United Kingdom. |
| 5373 |
De Lonlay |
P |
1 |
28954837
| 2017 |
NA |
| 5373 |
Ãunap |
K |
1 |
28425223
| 2017 |
Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia. |
| 5373 |
Jin |
S |
1 |
27053713
| 2016 |
Agios Pharmaceuticals, Inc., Cambridge, MA 02139-4169, USA |
| 5373 |
Fiumara |
A |
1 |
25355454
| 2015 |
NA |
| 5373 |
Nair |
MP |
1 |
25613138
| 2014 |
NA |
| 5373 |
Yang |
Z |
1 |
25173107
| 2014 |
1] Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China. [2] School of Medicine, University of Electronic Sci |
| 5373 |
Severini |
GM |
1 |
23988505
| 2013 |
NA |
| 5373 |
Demeret |
C |
1 |
22761572
| 2012 |
NA |
| 5373 |
Barnett |
CP |
1 |
22374380
| 2012 |
NA |
| 5373 |
Attié-Bitach |
T |
1 |
20638314
| 2010 |
NA |
| 5373 |
Savarirayan |
R |
1 |
18203160
| 2008 |
NA |
| 5373 |
Azevedo |
L |
1 |
17166182
| 2007 |
NA |
| 5373 |
Appleton |
D |
1 |
17451957
| 2007 |
NA |
| 5373 |
Lefeber |
DJ |
1 |
17694350
| 2007 |
NA |
| 5373 |
Allen |
KN |
1 |
16540464
| 2006 |
NA |
| 5373 |
Perrotti |
N |
1 |
15342340
| 2005 |
NA |
| 5373 |
Ohno |
K |
1 |
13129599
| 2003 |
NA |
| 5373 |
Krasnewich |
DM |
1 |
11891694
| 2002 |
NA |
| 5373 |
Krägeloh-Mann |
I |
1 |
11935250
| 2002 |
NA |
| 5373 |
Kuroda |
Y |
1 |
10066032
| 1999 |
NA |
| 5373 |
Jaeken |
J |
1 |
9497260
| 1998 |
NA |
| 5373 |
Van Schaftingen |
E |
1 |
9140401
| 1997 |
NA |
| 5373 |
Cassiman |
JJ |
1 |
9070917
| 1997 |
NA |
| 5373 |
Wahlström |
J |
1 |
7874123
| 1994 |
NA |