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1964, 2d ed., Foundations of modern biology series, x, 115 p. illus.
Book
1961, Foundations of modern biology series, 112
Book
1964, 2d ed. --, Foundations of modern biology series, x, 115
Book
by Frésard, Laure and Smail, Craig and Ferraro, Nicole M and Teran, Nicole A and Li, Xin and Smith, Kevin S and Bonner, Devon and Kernohan, Kristin D and Marwaha, Shruti and Zappala, Zachary and Balliu, Brunilda and Davis, Joe R and Liu, Boxiang and Prybol, Cameron J and Kohler, Jennefer N and Zastrow, Diane B and Reuter, Chloe M and Fisk, Dianna G and Grove, Megan E and Davidson, Jean M and Hartley, Taila and Joshi, Ruchi and Strober, Benjamin J and Utiramerur, Sowmithri and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Baker, Eva and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and ... and Care4Rare Canada Consortium and Undiagnosed Diseases Network
Nature Medicine, ISSN 1078-8956, 06/2019, Volume 25, Issue 6, pp. 911 - 919
It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene . The current... 
Disease | Splicing | Muscles | Ribonucleic acid--RNA | Gene expression | Disease control | Blood | Gene sequencing | Diseases | Mitochondria | Biopsy | Diagnostic software | Fibroblasts | Diagnostic systems | Mutation | Index Medicus
Journal Article
by Shashi, Vandana and Schoch, Kelly and Spillmann, Rebecca and Cope, Heidi and Tan, Queenie K.-G and Walley, Nicole and Pena, Loren and McConkie-Rosell, Allyn and Jiang, Yong-Hui and Stong, Nicholas and Need, Anna C and Goldstein, David B and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Herzog, Matthew R and Holm, Ingrid A and Hom, Jason and Howerton, Ellen M and Huang, Yong and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Lau, C. Christopher and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Genetics in Medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 161 - 172
Purpose: Sixty to seventy-five percent of individuals with rare and undiagnosed phenotypes remain undiagnosed after exome sequencing (ES). With standard ES... 
Rare diseases | Genome sequencing | Undiagnosed diseases | Exome sequencing | Phenotyping | REANALYSIS | VARIANTS | GENETICS & HEREDITY | MEDICAL GENETICS | WHOLE GENOME | Bioinformatics | Index Medicus | whole genome sequencing | rare diseases | undiagnosed diseases | Whole exome sequencing | phenotyping
Journal Article
by Shashi, Vandana and Pena, Loren D.M and Kim, Katherine and Burton, Barbara and Hempel, Maja and Schoch, Kelly and Walkiewicz, Magdalena and McLaughlin, Heather M and Cho, Megan and Stong, Nicholas and Hickey, Scott E and Shuss, Christine M and Bacino, A and Lee, Brendan H and Lee, Hane and Lee, Paul R and Balasubramanyam, Ashok and Burrage, Lindsay C and Clark, Gary D and Craigen, William J and Dhar, Shweta U and Emrick, Lisa T and Graham, Brett H and Jain, Mahim and Lalani, Seema R and Lewis, Richard A and Moretti, Paolo M and Nicholas, Sarah K and Orange, Jordan S and Posey, Jennifer E and Potocki, Lorraine and Rosenfeld, Jill A and Scott, Daryl A and Hanchard, Neil A and Alyssa, Tran A and Mercedes, Alejandro E and Mashid, Azamian S and Bellen, Hugo J and Yamamoto, Shinya and Wangler, Michael F and Westerfield, Monte and Postlethwait, John H and Eng, Christine M and Yang, Yaping and Muzny, Donna M and Ward, Patricia A and Ramoni, Rachel B and McCray, Alexa T and Kohane, Issac S and Holm, Ingrid A and Might, Matthew and Mazur, Paul and Splinter, Kimberly and Esteves, Cecilia and Jiang, Yong-hui and McConkie-Rosell, Allyn and Spillmann, Rebecca C and Sullivan, Jennifer A and Walley, Nicole M and Goldstein, David B and Beggs, Alan H and Loscalzo, Joseph and MacRae, Calum A and Silverman, Edwin K and Stoler, Joan M and Sweetser, David A and Maas, Richard L and Krier, Joel B and Rodan, Lance H and Walsh, Chris A and Cooper, Cynthia M and Pallais, Juan C and Donnell-Fink, Laurel A and Krieg, Elizabeth L and Lincoln, Sharyn A and Briere, Lauren C and Jacob, Howard J and Worthey, Elizabeth A and Lazar, Joe and Strong, Kim A and Handley, Lori H and Newberry, J. Scott and Bick, David P and Schroeder, Molly C and Brown, Donna M and Birch, Camille L and Levy, Denise J and Levy, Shawn E and Boone, Braden E and Dorset, Dan C and Jones, Angela L and Manolio, Teri A and Mulvihill, John J and Wise, Anastasia L and Dayal, Jyoti G and Eckstein, David J and Krasnewich, Donna M and Loomis, Carson R and Mamounas, Laura A and Iglesias, Brenda and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 991 - 999
Journal Article
by Burrage, Lindsay C and Reynolds, John J and Baratang, Nissan Vida and Phillips, John A and Phillips, Jennifer B and Wegner, Jeremy and McFarquhar, Ashley and Higgs, Martin R and Christiansen, Audrey E and Lanza, Denise G and Seavitt, John R and Jain, Mahim and Li, Xiaohui and Parry, David A and Raman, Vandana and Chitayat, David and Chinn, Ivan K and Bertuch, Alison A and Karaviti, Lefkothea and Schlesinger, Alan E and Earl, Dawn and Bamshad, Michael and Savarirayan, Ravi and Doddapaneni, Harsha and Muzny, Donna and Muzny, Donna M and Jhangiani, Shalini N and Eng, Christine M and Gibbs, Richard A and Bi, Weimin and Emrick, Lisa and Emrick, Lisa T and Rosenfeld, Jill A and Postlethwait, John H and Postlethwait, John and Westerfield, Monte and Dickinson, Mary E and Beaudet, Arthur L and Ranza, Emmanuelle and Huber, Celine and Cormier-Daire, Valérie and Shen, Wei and Mao, Rong and Heaney, Jason D and Orange, Jordan S and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Baker, Eva and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Duncan, Laura and Eckstein, David J and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and ... and Univ Washington Ctr Mendelian and Undiagnosed Dis Network and University of Washington Center for Mendelian Genomics and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 03/2019, Volume 104, Issue 3, pp. 422 - 438
SPONASTRIME dysplasia is an autosomal-recessive spondyloepimetaphyseal dysplasia characterized by spine (spondylar) abnormalities, midface hypoplasia with a... 
TONSL | exome sequencing | DNA replication | SPONASTRIME dysplasia | DNA repair | skeletal dysplasia | RECOMBINATION | READ ALIGNMENT | MMS22L-TONSL COMPLEX | REPLICATION | CHROMATIN | STABILITY | MUTATION | GENETICS & HEREDITY | MMS22L-NFKBIL2 COMPLEX | FRAMEWORK | PREDICTION | Physiological aspects | Dysplasia | Genetic aspects | Research | Genetic variation | Risk factors
Journal Article
by Kauwe, John S. K and Cruchaga, Carlos and Karch, Celeste M and Sadler, Brooke and Lee, Mo and Mayo, Kevin and Latu, Wayne and Su'a, Manti and Fagan, Anne M and Holtzman, David M and Morris, John C and Goate, Alison M and Saradha, A and Abdi, Hervé and Abeliovich, Asa and Abellan van Kan, Gabor and Abner, Erin and Acharya, Deepa and Adams, Nicholas and Adler, Daniel and Agrusti, Antonella and Agyemang, Alex and Ahdidan, Jamila and Ahn, Jae Eun and Aisen, Paul and Aksu, Yaman and Al-Akhras, Mousa and Alarcon, Marcelo and Alberca, Roman and Alexander, Gene and Alexander, Daniel and Almeida, Fabio and Amlien, Inge and Anand, Shyam and Anew, Marilee and Angersbach, Steve and Anjum, Ayesha and Aoyama, Eiji and Arfanakis, Konstantinos and Armor, Tom and Arnold, Steven and Asatryan, Albert and Ashe-McNalley, Cody and Ashiga, Hirokazu and Assareh, Arezoo and Le Page, Aurelie and Avants, Brian and Avinash, Gopal and Awasthi, Sukrati and Ayan-Oshodi, Mosun and Babic, Tomislav and Baek, Young and Bagci, Ulas and Bai, Shuyang and Baird, Geoffrey and Baker, John and Banks, Sarah and Bard, Jonathan and Barnes, Josephine and Barret, Olivier and Bartlett, Jonathan and Bartzokis, George and Barua, Neil and Bauer, Corinna and Becker, James and Becker, J. Alex and Beckett, Laurel and Bednar, Martin and Beg, Mirza Faisal and Bek, Stephan and Belmokhtar, Nabil and Bernard, Charlotte and Bertram, Lars and Bhaskar, Uday and Biffi, Alessano and Bigler, Erin and Bilgic, Basar and Bishop, Courtney and Bittner, Daniel and Black, Ronald and Blennow, Kaj and Bogorodzki, Piotr and Bokde, Arun and Bonner-Jackson, Aaron and Boppana, Madhu and Bourgeat, Pierrick and Bowes, Mike and Bowman, Gene and Braskie, Meredith and Braunewell, Karl and Breitner, Joihn and Brewer, James and Brickman, Adam and Britschgi, Markus and Broadbent, Steve and Brogren, Jacob and Brooks, David and Browndyke, Jeffrey and Brunton, Simon and Buchert, Ralph and ... and Alzheimer's Dis Neuroimaging Initi and Alzheimer's Disease Neuroimaging Initiative and Sahlgrenska akademin and Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi and Göteborgs universitet and Gothenburg University and Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry and Sahlgrenska Academy
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 2, pp. e15918 - e15918
Recent genome-wide association studies of Alzheimer's disease (AD) have identified variants in BIN1, CLU, CR1 and PICALM that show replicable association with... 
IDENTIFIES VARIANTS | AMYLOID-BETA | DEPOSITION | IN-VIVO | SUSCEPTIBILITY | BIOLOGY | LOCI | APOE | GENOME-WIDE ASSOCIATION | REVEALS | Genetic Predisposition to Disease - genetics | Phosphorylation | Clusterin - genetics | Peptide Fragments - cerebrospinal fluid | Humans | Middle Aged | tau Proteins - metabolism | Male | tau Proteins - cerebrospinal fluid | Alzheimer Disease - cerebrospinal fluid | Serine - metabolism | tau Proteins - chemistry | Monomeric Clathrin Assembly Proteins - genetics | Tumor Suppressor Proteins - genetics | Adaptor Proteins, Signal Transducing - genetics | Aged, 80 and over | Amyloid beta-Peptides - cerebrospinal fluid | Female | Aged | Polymorphism, Single Nucleotide | Biomarkers - cerebrospinal fluid | Receptors, Complement 3b - genetics | Alzheimer Disease - genetics | Nuclear Proteins - genetics | Advertising executives | Medical research | Genomics | Medicine, Experimental | Development and progression | B cells | Single nucleotide polymorphisms | Biological markers | Alzheimer's disease | Physicians | Genes | Amino acids | Genomes | Biology | Single-nucleotide polymorphism | Cerebrospinal fluid | Proteins | Bioindicators | Neurological disorders | Eigen values | Threonine | Neurodegenerative diseases | Health risks | Metabolism | Apolipoproteins | Medicine | Studies | Genetic variance | Neurology | Hypotheses | Genotyping | Tau protein | Biomarkers | β-Amyloid | Gene mapping | Alzheimers disease | Psychiatry | Index Medicus | Peptide Fragments | Biological Markers | Complement 3b | Serine | tau Proteins | Single Nucleotide | Clusterin | 80 and over | Receptors | genetics | Amyloid beta-Peptides | Psykiatri | chemistry | Genetic Predisposition to Disease | Monomeric Clathrin Assembly Proteins | Alzheimer Disease | Adaptor Proteins | Nuclear Proteins | Signal Transducing | cerebrospinal fluid | metabolism | Tumor Suppressor Proteins | Polymorphism
Journal Article