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Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Congenital Chylothorax in Neonatal Thyrotoxicosis.
- Published in:
- Journal of Perinatology, 1999, v. 19, n. 1, p. 68, doi. 10.1038/sj.jp.7200049
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- Publication type:
- Article
Congenital Chylothorax in Neonatal Thyrotoxicosis.
- Published in:
- Journal of Perinatology, 1999, v. 19, n. 1, p. 68, doi. 10.1038/sj.jp.7200049
- By:
- Publication type:
- Article
Identification of familial and de novo microduplications of 22q11.21–q11.23 distal to the 22q11.21 microdeletion syndrome region.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 8, p. 1377, doi. 10.1093/hmg/ddp042
- By:
- Publication type:
- Article
Genotypic glucose-6-phosphate dehydrogenase (G6PD) deficiency protects against Plasmodium falciparum infection in individuals living in Ghana.
- Published in:
- PLoS ONE, 2021, v. 16, n. 9, p. 1, doi. 10.1371/journal.pone.0257562
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- Publication type:
- Article
Effectiveness of a culturally tailored text messaging program for promoting cervical cancer screening in accra, Ghana: a quasi-experimental trial.
- Published in:
- BMC Women's Health, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12905-023-02867-2
- By:
- Publication type:
- Article
Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 30, doi. 10.1038/ejhg.2008.183
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- Publication type:
- Article
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2.
- Published in:
- Nature Genetics, 2007, v. 39, n. 9, p. 1071, doi. 10.1038/ng2107
- By:
- Publication type:
- Article
Coping strategies among adolescents and young adults living with HIV/AIDS in Accra-Ghana.
- Published in:
- BMC Public Health, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12889-023-17147-9
- By:
- Publication type:
- Article
Correction: Genotypic glucose-6-phosphate dehydrogenase (G6PD) deficiency protects against Plasmodium falciparum infection in individuals living in Ghana.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
Patterns and predictors of malaria among head porters: a mobile population in Ghana.
- Published in:
- Malaria Journal, 2024, v. 23, n. 1, p. 1, doi. 10.1186/s12936-024-05000-2
- By:
- Publication type:
- Article
Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030048
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- Publication type:
- Article
Contribution of P. falciparum parasites with Pfhrp 2 gene deletions to false negative PfHRP 2 based malaria RDT results in Ghana: A nationwide study of symptomatic malaria patients.
- Published in:
- PLoS ONE, 2020, v. 15, n. 9, p. 1, doi. 10.1371/journal.pone.0238749
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- Publication type:
- Article
Diagnostic performance of an ultra-sensitive RDT and a conventional RDT in malaria mass testing, treatment and tracking interventions in southern Ghana.
- Published in:
- Parasites & Vectors, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13071-024-06354-x
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- Publication type:
- Article
Impact of malaria diagnostic refresher training programme on competencies and skills in malaria diagnosis among medical laboratory professionals: evidence from Ghana 2015–2019.
- Published in:
- Malaria Journal, 2021, v. 20, n. 1, p. 1, doi. 10.1186/s12936-021-03796-x
- By:
- Publication type:
- Article
Malaria parasitaemia and mRDT diagnostic performances among symptomatic individuals in selected health care facilities across Ghana.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Nationwide Surveillance of Pfhrp2 Exon 2 Diversity in Plasmodium falciparum Circulating in Symptomatic Malaria Patients Living in Ghana.
- Published in:
- American Journal of Tropical Medicine & Hygiene, 2022, v. 106, n. 6, p. 1660, doi. 10.4269/ajtmh.21-1342
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- Publication type:
- Article
Unusual Metabolites in a Patient with Isovaleric Acidemia.
- Published in:
- Clinical Chemistry, 2019, v. 65, n. 4, p. 595, doi. 10.1373/clinchem.2018.300558
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- Publication type:
- Article
Nationwide molecular surveillance of three Plasmodium species harboured by symptomatic malaria patients living in Ghana.
- Published in:
- Parasites & Vectors, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13071-022-05153-6
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- Publication type:
- Article
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
- Published in:
- Human Mutation, 2011, v. 32, n. 2, p. 152, doi. 10.1002/humu.21361
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- Publication type:
- Article
The neuropsychological phenotype of velocardiofacial syndrome (VCFS): Relationship to psychopathology
- Published in:
- Archives of Clinical Neuropsychology, 2006, v. 21, n. 2, p. 175, doi. 10.1016/j.acn.2005.09.001
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- Publication type:
- Article
A case of insertional translocation involving chromosomes 2 and 4.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 2, p. 142, doi. 10.1111/j.1399-0004.1998.tb02662.x
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- Publication type:
- Article
Molecular characterization of distal 4q duplication in two patients using oligonucleotide array-based comparative genomic hybridization (oaCGH) analysis.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1069, doi. 10.1002/ajmg.a.36396
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- Publication type:
- Article
Therapeutic efficacy of dihydroartemisinin-piperaquine combination for the treatment of uncomplicated malaria in Ghana.
- Published in:
- Frontiers in Cellular & Infection Microbiology, 2023, v. 12, p. 1, doi. 10.3389/fcimb.2022.1058660
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- Publication type:
- Article
REPORTS RELATED TO PRACTICE:Vocational Psychology of Immigrant Women: Special issues and Practical Implications.
- Published in:
- Baltic Journal of Psychology, 2007, v. 8, n. 1/2, p. 67
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- Publication type:
- Article