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Brain, ISSN 0006-8950, 11/2017, Volume 140, Issue 11, pp. 2764 - 2767
Journal Article
Movement Disorders, ISSN 0885-3185, 01/2019, Volume 34, Issue 1, pp. 47 - 47
Journal Article
Movement Disorders, ISSN 0885-3185, 04/2017, Volume 32, Issue 4, pp. 529 - 529
Journal Article
The Journal of Pathology, ISSN 0022-3417, 01/2017, Volume 241, Issue 2, pp. 294 - 309
Journal Article
The Journal of Pathology, ISSN 0022-3417, 01/2017, Volume 241, Issue 2, pp. 251 - 263
Journal Article
Cell, ISSN 0092-8674, 02/2018, Volume 172, Issue 5, pp. 889 - 891
Despite revolutionary advances in sequencing approaches, many mendelian disorders have remained unexplained. In this issue of , Aneichyk et al. combine genomic... 
IDENTIFICATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | CELL BIOLOGY | Parkinsonian Disorders | Mutation | Genetic Diseases, X-Linked | Humans | Dystonic Disorders | Transcriptome | Genomics | Parkinson's disease | Index Medicus
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 05/2018, Volume 388, pp. 158 - 158
Journal Article
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, ISSN 0931-0509, 11/2018
Joubert syndrome (JS) is an inherited ciliopathy characterized by a complex midbrain-hindbrain malformation and multiorgan involvement. Renal disease, mainly... 
Journal Article
Journal Article
Stem Cell Research, ISSN 1873-5061, 08/2019, Volume 39, pp. 101510 - 101510
We generated PSMi001-A and PSMi008-A hiPSC lines from two individuals belonging to a South African (SA) founder population in which the malignant KCNQ1-A341V... 
Index Medicus
Journal Article
Annals of Neurology, ISSN 0364-5134, 12/2002, Volume 52, Issue 6, pp. 849 - 853
Journal Article
Stem Cell Research, ISSN 1873-5061, 07/2019, Volume 38
Joubert syndrome (JS) is an autosomal recessive neurodevelopmental disorder, characterized by congenital cerebellar and brainstem defects, belonging to the... 
Care and treatment | Gene mutations | Joubert syndrome | Stem cells | Research | Risk factors
Journal Article
by Klionsky, Daniel J and Abdalla, Fabio C and Abeliovich, Hagai and Abraham, Robert T and Acevedo-Arozena, Abraham and Adeli, Khosrow and Agholme, Lotta and Agnello, Maria and Agostinis, Patrizia and Aguirre-Ghiso, Julio A and Ahn, Hyung Jun and Ait-Mohamed, Ouardia and Ait-Si-Ali, Slimane and Akematsu, Takahiko and Akira, Shizuo and Al-Younes, Hesham M and Al-Zeer, Munir A and Albert, Matthew L and Albin, Roger L and Alegre-Abarrategui, Javier and Aleo, Maria Francesca and Alirezaei, Mehrdad and Almasan, Alexandru and Almonte-Becerril, Maylin and Amano, Atsuo and Amaravadi, Ravi K and Amarnath, Shoba and Amer, Amal O and Andrieu-Abadie, Nathalie and Anantharam, Vellareddy and Ann, David K and Anoopkumar-Dukie, Shailendra and Aoki, Hiroshi and Apostolova, Nadezda and Arancia, Giuseppe and Aris, John P and Asanuma, Katsuhiko and Asare, Nana Y.O and Ashida, Hisashi and Askanas, Valerie and Askew, David S and Auberger, Patrick and Baba, Misuzu and Backues, Steven K and Baehrecke, Eric H and Bahr, Ben A and Bai, Xue-Yuan and Bailly, Yannick and Baiocchi, Robert and Baldini, Giulia and Balduini, Walter and Ballabio, Andrea and Bamber, Bruce A and Bampton, Edward T.W and Juhász, Gábor and Bartholomew, Clinton R and Bassham, Diane C and Bast, Robert C and Batoko, Henri and Bay, Boon-Huat and Beau, Isabelle and Béchet, Daniel M and Begley, Thomas J and Behl, Christian and Behrends, Christian and Bekri, Soumeya and Bellaire, Bryan and Bendall, Linda J and Benetti, Luca and Berliocchi, Laura and Bernardi, Henri and Bernassola, Francesca and Besteiro, Sébastien and Bhatia-Kissova, Ingrid and Bi, Xiaoning and Biard-Piechaczyk, Martine and Blum, Janice S and Boise, Lawrence H and Bonaldo, Paolo and Boone, David L and Bornhauser, Beat C and Bortoluci, Karina R and Bossis, Ioannis and Bost, Frédéric and Bourquin, Jean-Pierre and Boya, Patricia and Boyer-Guittaut, Michaël and Bozhkov, Peter V and Brady, Nathan R and Brancolini, Claudio and Brech, Andreas and Brenman, Jay E and Brennand, Ana and Bresnick, Emery H and Brest, Patrick and Bridges, Dave and Bristol, Molly L and Brookes, Paul S and Brown, Eric J and Brumell, John H and ... and Linköpings universitet and Institutionen för klinisk och experimentell medicin and Geriatrik and Institutionen för medicin och hälsa and Farmakologi and Experimentell patologi and Hälsouniversitetet and Cellbiologi
Autophagy, ISSN 1554-8627, 04/2012, Volume 8, Issue 4, pp. 445 - 544
Journal Article