genetic diseases

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1
Integrating Genetic Data into Electronic Health Records: Medical Geneticists' Perspectives.
Ayatollahi, Haleh;Hosseini, Seyedeh Fatemeh;Hemmat, Morteza;
2019 healthcare informatics research DOI: 10.4258/hir.2019.25.... 266 views
2
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
Del Dotto, Valentina;Ullah, Farid;Di Meo, Ivano;Magini, Pamela;Gusic, Mirjana;Maresca, Alessandra;Ca...
2020 The Journal of clinical investigation DOI: 10.1172/JCI128514 284 views
3
PPNID: a reference database and molecular identification pipeline for plant-parasitic nematodes.
Qing, Xue;Wang, Meng;Karssen, Gerrit;Bucki, Patricia;Bert, Wim;Braun-Miyara, Sigal;
2020 Bioinformatics DOI: 10.1093/bioinformati... 252 views
4
A novel missense mutation in CAV3 gene in an Italian family with persistent hyperCKemia, myalgia and hypercholesterolemia: Double-trouble.
Bruno, Giorgia;Puoti, Gianfranco;Oliva, Mariano;Colavito, Davide;Allegorico, Lia;Napolitano, Filomen...
2020 clinical neurology and neurosurgery DOI: S0303-8467(20)30030-... 178 views
5
atypical case of wilson's disease with psychotic onset, low 24 hour urine copper and the absence of kayser-fleischer rings
;Krstić Dragan;Antonijević Jadranka;Špirić Željko
2014 applied nursing research : anr DOI: 10.2298/VSP130529049... 208 views
6
New trend in the epidemiology of thalassaemia.
Li, Chi-Kong;
2017 best practice & research clinical obstetrics & gyn... DOI: S1521-6934(16)30121-... 181 views
7
Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.
Gu, Ying;Lu, Kangmo;Yang, Guanghui;Cen, Zhong;Yu, Li;Lin, Lin;Hao, Jing;Yang, Zhigang;Peng, Jiabao;C...
2014 PloS one DOI: 10.1371/journal.pone... 239 views
8
[Sensory-psychomotor evaluation in Autism: A new tool for functional diagnosis].
Le Menn-Tripi, C;Vachaud, A;Defas, N;Malvy, J;Roux, S;Bonnet-Brilhault, F;
2019 l'encephale DOI: S0013-7006(19)30039-... 144 views
9
Gene-based approaches to inherited neurometabolic diseases.
Poletti, Valentina;Biffi, Alessandra;
2019 human gene therapy DOI: 10.1089/hum.2019.190 204 views
10
Drugs and hepatic transporters: A review.
Jetter, Alexander;Kullak-Ublick, Gerd A;
2019 pharmacological research DOI: S1043-6618(19)30032-... 140 views
11
Electrolyte disorders as a hallmark of monogenetic diseases
Schröder, K.
2015 internist DOI: 10.1007/s00108-015-3... 138 views
12
Neurodegeneration with Brain Iron Accumulation Disorders: Valuable Models Aimed at Understanding the Pathogenesis of Iron Deposition
Levi, Sonia;Tiranti, Valeria;
2019 pharmaceuticals 280 views
13
Erectile Dysfunction and Peyronie's Disease: Genetic Diseases?
Patel, Darshan P;Christensen, Michael B;Hotaling, James M;Pastuszak, Alexander W;
2019 european urology focus DOI: S2405-4569(19)30224-... 237 views
14
Nucleic acids biosensors based on metal-organic framework (MOF): Paving the way to clinical laboratory diagnosis.
Osman, Diaa I;El-Sheikh, Said M;Sheta, Sheta M;Ali, Omnia I;Salem, Aliaa M;Shousha, Wafaa Gh;El-Kham...
2019 Biosensors & bioelectronics DOI: S0956-5663(19)30530-... 245 views
15
[A qualitative approach to rare genetic diseases: an integrative review of the national and international literature].
Souza, Ítala Paris de;Androlage, Juliana Soares;Bellato, Roseney;Barsaglini, Reni Aparecida;
2019 Ciencia & saude coletiva DOI: S1413-81232019001003... 248 views
16
What will Become of the Taxpayer Investment in Public Cord Blood Stem Cell Banking?
Harris, David T;Israel, Scott;
2019 current stem cell research & therapy DOI: 10.2174/1574888X1466... 212 views
17
Cell-free miRNAs as non-invasive biomarkers in breast cancer: Significance in early diagnosis and metastasis prediction.
Kashyap, Dharambir;Kaur, Harmandeep;
2020 Life sciences DOI: S0024-3205(20)30164-... 294 views
18
Norm Change in Genetic Services. How the Discourse of Choice Replaced the Discourse of Prevention
Paul, Diane B.;
0000 varia história 379 views
19
Sequence Variants in Three Genes Underlying Leukodystrophy in Pakistani Families.
Bibi, Farah;Haider, Nighat;Din, Shahab Ud;Shah, Muqadar;Krishin, Jai;Qayyum, Naila;Raja, Ghazala Kau...
2020 International journal of developmental neuroscienc... DOI: 10.1002/jdn.10036 181 views
20
Rare Genetic Diseases: Nature's Experiments on Human Development
Lee, C.E.
2020 iScience DOI: 10.1016/j.isci.2020.... 165 views

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electronic health records Medical Informatics genetics user requirements ophthalmology mitochondria bioenergetics hypercholesterolemia creatine kinase myalgia caveolin-3 caveolinopathy muscular diseases diagnosis mental disorders copper molecular biology inborn