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Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 1, pp. 36 - 45
Journal Article
by Braun, Daniela A and Rao, Jia and Mollet, Geraldine and Schapiro, David and Daugeron, Marie-Claire and Tan, Weizhen and Gribouval, Olivier and Boyer, Olivia and Revy, Patrick and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Lawson, Jennifer A and Schanze, Denny and Ashraf, Shazia and Ullmann, Jeremy F P and Hoogstraten, Charlotte A and Boddaert, Nathalie and Collinet, Bruno and Martin, Gaëlle and Liger, Dominique and Lovric, Svjetlana and Furlano, Monica and Guerrera, I Chiara and Sanchez-Ferras, Oraly and Hu, Jennifer F and Boschat, Anne-Claire and Sanquer, Sylvia and Menten, Björn and Vergult, Sarah and De Rocker, Nina and Airik, Merlin and Hermle, Tobias and Shril, Shirlee and Widmeier, Eugen and Gee, Heon Yung and Choi, Won-Il and Sadowski, Carolin E and Pabst, Werner L and Warejko, Jillian K and Daga, Ankana and Basta, Tamara and Matejas, Verena and Scharmann, Karin and Kienast, Sana D and Behnam, Babak and Beeson, Brendan and Begtrup, Amber and Bruce, Malcolm and Ch'ng, Gaik-Siew and Lin, Shuan-Pei and Chang, Jui-Hsing and Chen, Chao-Huei and Cho, Megan T and Gaffney, Patrick M and Gipson, Patrick E and Hsu, Chyong-Hsin and Kari, Jameela A and Ke, Yu-Yuan and Kiraly-Borri, Cathy and Lai, Wai-Ming and Lemyre, Emmanuelle and Littlejohn, Rebecca Okashah and Masri, Amira and Moghtaderi, Mastaneh and Nakamura, Kazuyuki and Ozaltin, Fatih and Praet, Marleen and Prasad, Chitra and Prytula, Agnieszka and Roeder, Elizabeth R and Rump, Patrick and Schnur, Rhonda E and Shiihara, Takashi and Sinha, Manish D and Soliman, Neveen A and Soulami, Kenza and Sweetser, David A and Tsai, Wen-Hui and Tsai, Jeng-Daw and Topaloglu, Rezan and Vester, Udo and Viskochil, David H and Vatanavicharn, Nithiwat and Waxler, Jessica L and Wierenga, Klaas J and Wolf, Matthias T F and Wong, Sik-Nin and Leidel, Sebastian A and Truglio, Gessica and Dedon, Peter C and Poduri, Annapurna and Mane, Shrikant and Lifton, Richard P and Bouchard, Maxime and Kannu, Peter and Chitayat, David and Magen, Daniella and Callewaert, Bert and van Tilbeurgh, Herman and Zenker, Martin and ...
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 10, pp. 1529 - 1529
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly... 
YEAST | UNFOLDED PROTEIN RESPONSE | TRANSFER-RNA MODIFICATION | DNA | KINASE | GENETICS & HEREDITY | SECKEL-SYNDROME | GENOME MAINTENANCE | WDR73 | GALLOWAY-MOWAT SYNDROME | MASS-SPECTROMETRY | Metalloendopeptidases - genetics | Protein-Serine-Threonine Kinases - deficiency | Microcephaly - genetics | Humans | Metalloendopeptidases - deficiency | Apoptosis - genetics | Multiprotein Complexes - genetics | Nephrotic Syndrome - genetics | DNA Repair - genetics | Telomere Homeostasis - genetics | Endoplasmic Reticulum Stress - genetics | Intracellular Signaling Peptides and Proteins - deficiency | Hernia, Hiatal - genetics | Intracellular Signaling Peptides and Proteins - genetics | Podocytes - metabolism | RNA, Transfer - metabolism | Protein-Serine-Threonine Kinases - genetics | Models, Molecular | Nephrotic Syndrome - pathology | Zebrafish | Cytoskeleton - ultrastructure | Nephrosis - genetics | Gene Knockout Techniques | Carrier Proteins - genetics | Podocytes - ultrastructure | Zebrafish Proteins - deficiency | Animals | RNA Processing, Post-Transcriptional - genetics | CRISPR-Cas Systems | Protein Conformation | Mice | Mutation | Zebrafish Proteins - genetics | Cell Movement | Genetic disorders | Gene mutations | Development and progression | Nephrotic syndrome | Genetic aspects | Microcephaly | Health aspects | Cell proliferation | Brain | CRISPR | Genes | DNA damage | Genomes | Lethality | Kinases | Proteins | Genotype & phenotype | Microencephaly | Actin | Biopsy | Cytoskeleton | Scientific imaging | Endoplasmic reticulum | Mass spectrometry | Deoxyribonucleic acid--DNA | Apoptosis | Index Medicus | Life Sciences
Journal Article
Substance Use and Misuse, ISSN 1082-6084, 01/2019, Volume 54, Issue 1, pp. 130 - 145
Journal Article
Journal Article
by Stephen W. Scherer and Joseph Cheung and Jeffrey R. MacDonald and Lucy R. Osborne and Kazuhiko Nakabayashi and Jo-Anne Herbrick and Andrew R. Carson and Layla Parker-Katiraee and Jennifer Skaug and Razi Khaja and Junjun Zhang and Alexander K. Hudek and Martin Li and May Haddad and Gavin E. Duggan and Bridget A. Fernandez and Emiko Kanematsu and Simone Gentles and Constantine C. Christopoulos and Sanaa Choufani and Dorota Kwasnicka and Xiangqun H. Zheng and Zhongwu Lai and Deborah Nusskern and Qing Zhang and Zhiping Gu and Fu Lu and Susan Zeesman and Malgorzata J. Nowaczyk and Ikuko Teshima and David Chitayat and Cheryl Shuman and Rosanna Weksberg and Elaine H. Zackai and Theresa A. Grebe and Sarah R. Cox and Susan J. Kirkpatrick and Nazneen Rahman and Jan M. Friedman and Henry H. Q. Heng and Pier Giuseppe Pelicci and Francesco Lo-Coco and Elena Belloni and Lisa G. Shaffer and Barbara Pober and Cynthia C. Morton and James F. Gusella and Gail A. P. Bruns and Bruce R. Korf and Bradley J. Quade and Azra H. Ligon and Heather Ferguson and Anne W. Higgins and Natalia T. Leach and Steven R. Herrick and Emmanuelle Lemyre and Chantal G. Farra and Hyung-Goo Kim and Anne M. Summers and Karen W. Gripp and Wendy Roberts and Peter Szatmari and Elizabeth J. T. Winsor and Karl-Heinz Grzeschik and Ahmed Teebi and Berge A. Minassian and Juha Kere and Lluis Armengol and Miguel Angel Pujana and Xavier Estivill and Michael D. Wilson and Ben F. Koop and Sabrina Tosi and Gudrun E. Moore and Andrew P. Boright and Eitan Zlotorynski and Batsheva Kerem and Peter M. Kroisel and Erwin Petek and David G. Oscier and Sarah J. Mould and Hartmut Döhner and Konstanze Döhner and Johanna M. Rommens and John B. Vincent and J. Craig Venter and Peter W. Li and Richard J. Mural and Mark D. Adams and Lap-Chee Tsui
Science, ISSN 0036-8075, 5/2003, Volume 300, Issue 5620, pp. 767 - 772
Journal Article
Psychology of Addictive Behaviors, ISSN 0893-164X, 02/2018, Volume 32, Issue 1, pp. 132 - 139
Journal Article
Implementation Science, ISSN 1748-5908, 2012, Volume 7, Issue 1, pp. 82 - 82
Journal Article
BMC Public Health, ISSN 1471-2458, 2016, Volume 16, Issue 1, pp. 598 - 598
Journal Article
Journal of Pediatrics, The, ISSN 0022-3476, 2010, Volume 156, Issue 3, pp. 382 - 387.e3
Objective To determine whether the benefits of caffeine vary in three subgroups of 2006 participants in the Caffeine for Apnea of Prematurity (CAP) trial.... 
Pediatrics | PEDIATRICS | THERAPY | THEOPHYLLINE | AMINOPHYLLINE | Apnea - therapy | Caffeine - therapeutic use | Humans | Female | Male | Infant, Premature, Diseases - therapy | Xanthines - therapeutic use | Oxygen Inhalation Therapy | Infant, Newborn | Congenital heart disease | Apnea | Infants (Premature) | Caffeine | Index Medicus | Abridged Index Medicus
Journal Article