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1. Full Text Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders
by El-Hattab, Ayman W and Emrick, Lisa T and Craigen, William J and Scaglia, Fernando
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2012, Volume 107, Issue 3, pp. 247 - 252
Mitochondrial diseases arise as a result of dysfunction of the respiratory chain, leading to inadequate ATP production required to meet the energy needs of... 
Endothelial dysfunction | Stroke-like episodes | Nitric oxide synthase (NOS) | Nitric oxide deficiency | Lactic acidosis | Myopathy | MEDICINE, RESEARCH & EXPERIMENTAL | MICROVASCULAR DYSFUNCTION | SYNTHASE | INSULIN-RESISTANCE | AMINO-ACIDS | ENZYMES | UREA CYCLE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | LACTIC-ACIDOSIS | MELAS | Electron Transport - drug effects | Reactive Nitrogen Species - metabolism | Humans | Citrulline - metabolism | Clinical Trials as Topic | MELAS Syndrome - metabolism | Mitochondria - metabolism | Citrulline - therapeutic use | Mitochondria - drug effects | Mitochondria - pathology | Argininosuccinate Lyase - metabolism | Argininosuccinate Synthase - metabolism | Nitric Oxide - agonists | Electron Transport Complex IV - metabolism | Citrulline - pharmacology | Nitric Oxide - deficiency | Arginine - pharmacology | MELAS Syndrome - pathology | MELAS Syndrome - drug therapy | Nitric Oxide Synthase Type III - metabolism | Arginine - therapeutic use | Arginine - metabolism | Cytochrome oxidase | Electric utilities | Arginine | Health aspects | Nitric oxide | ATP
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2. Full Text Mitochondria: Role of citrulline and arginine supplementation in MELAS syndrome
by El-Hattab, Ayman W and Emrick, Lisa T and Chanprasert, Sirisak and Craigen, William J and Scaglia, Fernando
International Journal of Biochemistry and Cell Biology, ISSN 1357-2725, 03/2014, Volume 48, Issue 1, pp. 85 - 91
Mitochondria are found in all nucleated human cells and generate most of the cellular energy. Mitochondrial disorders result from dysfunctional mitochondria... 
Stroke-like episodes | Nitric oxide synthase (NOS) | Lactic acidosis | Nitric oxide (NO) | Myopathy | SYSTEM | NITRIC-OXIDE SYNTHASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | DEFICIENCY | CELL BIOLOGY | ENCEPHALOPATHY | DISEASES | KINETICS | ENZYMES | LACTIC-ACIDOSIS | Citrulline - pharmacology | Mitochondria - genetics | Nitric Oxide - deficiency | Arginine - pharmacology | Humans | MELAS Syndrome - drug therapy | MELAS Syndrome - metabolism | Mitochondria - metabolism | Citrulline - therapeutic use | Mitochondria - drug effects | Arginine - therapeutic use | Nitric Oxide - metabolism | Mitochondrial DNA | Arginine | Health aspects | Nitric oxide | Cells | Medical genetics | Mitochondria | Utilities | Precursors | Disorders | Biochemistry | Biology | Acidosis | Blood
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3. Full Text Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation
by El-Hattab, Ayman W and Hsu, Jean W and Emrick, Lisa T and Wong, Lee-Jun C and Craigen, William J and Jahoor, Farook and Scaglia, Fernando
Molecular Genetics and Metabolism, ISSN 1096-7192, 04/2012, Volume 105, Issue 4, pp. 607 - 614
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most common mitochondrial disorders. Although the... 
Endothelial dysfunction | Nitric oxide synthase | Clinical research | Stroke | Stable isotope | Mitochondrial diseases | MEDICINE, RESEARCH & EXPERIMENTAL | ASYMMETRIC DIMETHYLARGININE | MITOCHONDRIAL MYOPATHY | ENCEPHALOPATHY | PLASMA | METABOLISM | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | STROKE-LIKE EPISODES | LACTIC-ACIDOSIS | Prognosis | MELAS Syndrome - diet therapy | Humans | Middle Aged | Male | MELAS Syndrome - metabolism | Case-Control Studies | Arginine - administration & dosage | Young Adult | Adolescent | Adult | Female | Citrulline - administration & dosage | Nitric Oxide - metabolism | Dietary Supplements | Nitrogen oxide | Arginine | Analysis | Nitric oxide | Mitochondria | Ischemia | Supplementation | MELAS syndrome | Metabolism | Isotopes | Lactic acidosis | citrulline | stroke-like episodes
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4. Full Text Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation
by El-Hattab, Ayman W and Emrick, Lisa T and Hsu, Jean W and Chanprasert, Sirisak and Almannai, Mohammed and Craigen, William J and Jahoor, Farook and Scaglia, Fernando
Molecular Genetics and Metabolism, ISSN 1096-7192, 04/2016, Volume 117, Issue 4, pp. 407 - 412
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most frequent maternally inherited mitochondrial... 
Stable isotope | Mitochondrial diseases | Lactic acidosis | Stroke-like | MEDICINE, RESEARCH & EXPERIMENTAL | MITOCHONDRIAL MYOPATHY | ENCEPHALOPATHY | TREATMENT OPTIONS | METABOLISM | ENZYMES | TRANSFER RNALEU(UUR) GENE | MUTATION | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | BLOOD-VESSELS | STROKE-LIKE EPISODES | LACTIC-ACIDOSIS | Nitric Oxide - biosynthesis | Arginine - pharmacokinetics | Citrulline - pharmacokinetics | MELAS Syndrome - diet therapy | Humans | Child, Preschool | Male | Treatment Outcome | MELAS Syndrome - metabolism | Case-Control Studies | Arginine - administration & dosage | MELAS Syndrome - diagnosis | Adolescent | Female | Citrulline - administration & dosage | Child | Dietary Supplements | Arginine | Nitric oxide | Children | Stroke (Disease) | Medicine, Experimental | Medical research | lactic acidosis | mitochondrial diseases | stable isotope | stroke-like
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5. Full Text Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
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 and Medicinska fakulteten and Klinisk epidemiologi and Medicinska och farmaceutiska vetenskapsområdet and Uppsala universitet and Institutionen för medicinska vetenskaper
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... 
Rare Diseases - genetics | Acid Ceramidase - genetics | Rare Diseases - blood | Humans | Child, Preschool | Male | Case-Control Studies | Potassium Channels - genetics | RNA - genetics | Whole Exome Sequencing | Genetic Variation | Sequence Analysis, RNA | RNA Splicing - genetics | Female | Oxidoreductases Acting on CH-CH Group Donors - genetics | Models, Genetic | Mutation | Child | RNA - blood | Cohort Studies | Disease | Splicing | Muscles | Ribonucleic acid--RNA | Gene expression | Disease control | Blood | Gene sequencing | Diseases | Mitochondria | Biopsy | Diagnostic software | Fibroblasts | Diagnostic systems | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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6. Full Text The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
by Ramoni, Rachel B and Mulvihill, John J and Adams, Christopher J and Adams, David R and Allard, Patrick and Ashley, Euan A and Bernstein, Jonathan A and Gahl, William A and Hamid, Rizwan and Loscalzo, Joseph and McCray, Alexa T and Shashi, Vandana and Tifft, Cynthia J and Alejandro, Mercedes E and Azamian, Mashid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Beggs, Alan H and Bellen, Hugo J and Bernick, David and Bican, Anna and Bick, David P and Birch, Camille L and Boone, Braden E and Briere, Lauren C and Brown, Donna M and Brownstein, Catherine A and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chao, Katherine R and Clark, Gary D and Cogan, Joy D and Cooper, Cynthia M and Craigen, William J and Davids, Mariska 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 Draper, David D and Dries, Annika M and Eastwood, Rachel and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Esteves, Cecilia and Estwick, Tyra and Fisher, Paul G and Frisby, Trevor S and Frost, Kate and Gartner, Valerie and Godfrey, Rena A and Goheen, Mitchell and Golas, Gretchen A and Goldstein, David B and Gordon, Mary “Gracie” G and Gould, Sarah E and Gourdine, Jean-Philippe F and Graham, Brett H and Groden, Catherine A and Gropman, Andrea L and Hackbarth, Mary E and Haendel, Melissa and Hanchard, Neil A and Handley, Lori H and Hardee, Isabel and Herzog, Matthew R and Holm, Ingrid A and Howerton, Ellen M and Iglesias, Brenda and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koehler, Alanna E 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 Latham, Lea and Latour, Yvonne L and Lau, C. Christopher and Lazar, Jozef and Lee, Paul R and Lee, Brendan H and Lee, Hane and Levy, Denise J and Levy, Shawn E and Lewis, Richard A and Liebendorder, Adam P and ... and Undiag Dis Network and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 185 - 192
Diagnosis at the edges of our knowledge calls upon clinicians to be data driven, cross-disciplinary, and collaborative in unprecedented ways. Exact disease... 
rare diseases | diagnosis | National Institutes of Health | high-throughput nucleotide sequencing | phenotyping | cooperative behavior | INSTITUTES-OF-HEALTH | RARE DISEASES | GENETICS & HEREDITY | GLYCOSYLATION | MUTATIONS | PROGRAM | CARE | National Institutes of Health (U.S.) | Rare Diseases - genetics | Metabolomics | Phenotype | United States | Humans | Information Dissemination - methods | Rare Diseases - diagnosis | Genotype | Genotyping Techniques | Sequence Analysis, DNA | Technology application | Diagnosis | Rare diseases | Usage | Genetic aspects | Research | Nucleotide sequencing | DNA sequencing
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7. Full Text MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
by Wang, Julia and Al-Ouran, Rami and Hu, Yanhui and Kim, Seon-Young and Wan, Ying-Wooi and Wangler, Michael F and Yamamoto, Shinya and Chao, Katherine R and Chao, Hsiao-Tuan and Comjean, Aram and Mohr, Stephanie E and Adams, David R and Adams, Christopher J and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mashid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Beggs, Alan H and Bellen, Hugo J and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Boone, Braden E and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Clark, Gary D and Cogan, Joy D and Cooper, Cynthia M and Craigen, William J and Davids, Mariska 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 Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Esteves, Cecilia and Estwick, Tyra and Fisher, Paul G and Frisby, Trevor S and Frost, Kate and Gahl, William A and Gartner, Valerie and Godfrey, Rena A and Goheen, Mitchell and Golas, Gretchen A and Goldstein, David B and Gordon, Mary G and Gould, Sarah E and Gourdine, Jean-Philippe F and Graham, Brett H and Groden, Catherine A and Gropman, Andrea L and Hackbarth, Mary E and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Hardee, Isabel and Herzog, Matthew R and Holm, Ingrid A and Howerton, Ellen M and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koehler, Alanna E 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 Latham, Lea and Latour, Yvonne L and Lau, C. Christopher and Lazar, Jozef and Lee, Paul R and Lee, Hane and Lee, Brendan H and Levy, Shawn E and Levy, Denise J and Lewis, Richard A and Liebendorfer, Adam P and ... and UDN
The American Journal of Human Genetics, ISSN 0002-9297, 06/2017, Volume 100, Issue 6, pp. 843 - 853
One major challenge encountered with interpreting human genetic variants is the limited understanding of the functional impact of genetic alterations on... 
rare diseases | genetic diseases | Diopt | Geno2MP | ExAC | Zfin | variants of unknown significance | FlyBase | MGI | ClinVar | SEQUENCE VARIANTS | PHENOTYPES | DATABASE | GENETICS & HEREDITY | Genetic Variation | Databases, Genetic | Software | Genome, Human | Humans | Molecular Sequence Annotation | Genetic research | Technology application | Research | Genetic variation
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8. Full Text Model organisms facilitate rare disease diagnosis and therapeutic research
by Wangler, Michael F and Yamamoto, Shinya and Chao, Hsiao-Tuan and Posey, Jennifer E and Westerfield, Monte and Postlethwait, John and Hieter, Philip and Boycott, Kym M and Campeau, Philippe M and Bellen, Hugo J and Adams, David R and Hanchard, Neil A and Papp, Jeanette C and Alejandro, Mercedes E and Handley, Lori H and Parker, Neil H and Allard, Patrick and Herzog, Matthew R and Pena, Loren D. M and Ashley, Euan A and Holm, Ingrid A and Phillips, John A and Azamian, Mahshid S and Howerton, Ellen M and Bacino, Carlos A and Jacob, Howard J and Postlethwait, John H and Balasubramanyam, Ashok and Jain, Mahim and Potocki, Lorraine and Barseghyan, Hayk and Jiang, Yong-Hui and Pusey, Barbara N and Beggs, Alan H and Johnston, Jean M and Ramoni, Rachel B and Jones, Angela L and Robertson, Amy K and Bernstein, Jonathan A and Koeller, David M and Rodan, Lance H and Bican, Anna and Kohane, Isaac S and Rosenfeld, Jill A and Bick, David P and Kohler, Jennefer N and Samson, Susan L and Birch, Camille L and Krasnewich, Donna M and Schoch, Kelly and Boone, Braden E and Krieg, Elizabeth L and Schroeder, Molly C and Bostwick, Bret L and Krier, Joel B and Scott, Daryl A and Briere, Lauren C and Kyle, Jennifer E and Sharma, Prashant and Brown, Donna M and Lalani, Seema R and Shashi, Vandana and Brush, Matthew and Lau, C. Christopher and Silverman, Edwin K and Burke, Elizabeth A and Lazar, Jozef and Sinsheimer, Janet S and Burrage, Lindsay C and Lee, Brendan H and Soldatos, Ariane G and Chen, Shan and Lee, Hane and Spillmann, Rebecca C and Clark, Gary D and Levy, Shawn E and Splinter, Kimberly and Cogan, Joy D and Lewis, Richard A and Stoler, Joan M and Cooper, Cynthia M and Lincoln, Sharyn A and Stong, Nicholas and Craigen, William J and Lipson, Allen and Strong, Kimberly A and Davids, Mariska and Loo, Sandra K and Sullivan, Jennifer A and Dayal, Jyoti G and Loscalzo, Joseph and Sweetser, David A and Dell'Angelica, Esteban C and Maas, Richard L and Tifft, Cynthia J and Dhar, Shweta U and Macnamara, Ellen F and Toro, Camilo and Dillon, Ani and MacRae, Calum A and ... and UDN and Members of the Undiagnosed Diseases Network (UDN)
Genetics, ISSN 0016-6731, 2017, Volume 207, Issue 1, pp. 9 - 27
Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly involve the use of next-generation sequencing and comparative genomic... 
Human | Diagnostics | Drosophila | Whole-exome sequencing | Zebrafish | Genetic diseases | Functional genomics | genetic diseases | RECURRENT DE-NOVO | METABOLIC CRISES | GENETIC-CONTROL | HEALTH UNDIAGNOSED DISEASES | functional genomics | diagnostics | CELL-DIVISION CYCLE | GENETICS & HEREDITY | zebrafish | FUNCTIONAL ANNOTATION | human | whole-exome sequencing | WEB-BASED TOOL | TRUNCATING MUTATIONS | GENOME-WIDE ASSOCIATION | DROSOPHILA RESEARCH | Rare Diseases - genetics | Humans | Genetic Diseases, Inborn - genetics | Rare Diseases - diagnosis | Genetic Diseases, Inborn - therapy | Genetic Testing - methods | Zebrafish - genetics | Exome | Animals | Rare Diseases - therapy | Genetic Diseases, Inborn - diagnosis | Disease Models, Animal | Drosophila - genetics | Biomedical research | Yeast | Disease | Pathogenesis | Genomics | Genes | Research guides | Genomes | Organisms | Hybridization | Medical diagnosis | Cell cycle | Genetics | Physiology | Diagnosis | Medical research | Genetic disorders | Gene families | Organs | Genetic diversity | Diseases | Studies | Researchers | Insects | Collaboration | Diagnostic systems | Review
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9. Full Text Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum
by Emrick, LT and Rosenfeld, JA and Lalani, SR and Jain, M and Desai, NK and Larson, A and Kripps, K and Vanderver, A and Taft, RJ and Bluske, K and Perry, D and Nagakura, H and Immken, LL and Burrage, LC and Bacino, CA and Belmont, JW and Lee, B and Undiagnosed Dis Network
GENETICS IN MEDICINE, ISSN 1098-3600, 07/2019, Volume 21, Issue 7, pp. 1652 - 1656
Purpose: Brain malformations caused by 17p13.3 deletions include lissencephaly with deletions of the larger Miller-Dieker syndrome region or smaller deletions... 
17p13.3 microdeletion | white matter | chromosomal microarray | GENE | NOGO-66 | GENETICS & HEREDITY | leukoencephalopathy | DELETIONS | HIC1
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