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American Journal of Medical Genetics: Part A
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Genomic basis of syndromic short stature in an Algerian patient cohort
- First Published: 13 October 2021
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The introduction of clinical genetic testing in Ethiopia: Experiences and lessons learned
- First Published: 24 June 2021
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Undiagnosed disease program in South Africa: Results from first 100 exomes
- First Published: 26 May 2022
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Rubinstein–Taybi syndrome in diverse populations
- First Published: 27 September 2020
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Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa)
- First Published: 14 May 2020
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Dysmorphism and major anomalies are a main predictor of survival in newborns admitted to the neonatal intensive care unit in the Democratic Republic of Congo
- First Published: 27 November 2020
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Objective evaluation of facial features in Congolese newborns by facial measurements. The need for population-specific measurements
- First Published: 20 August 2022
Annals of Human Genetics
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Differential mutational profiles of familial Mediterranean fever in North Africa
- First Published: 20 August 2020
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Role of innate immune receptors TLR4 and TLR2 polymorphisms in systemic lupus erythematosus susceptibility
- First Published: 07 February 2022
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Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing
- First Published: 03 February 2022
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An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families
- First Published: 10 June 2021
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Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study
- First Published: 08 September 2022
Clinical Genetics
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Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights
- First Published: 02 August 2020
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The evolution of the nosology of osteogenesis imperfecta
- First Published: 09 September 2020
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ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype
- First Published: 19 August 2020
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Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia
- First Published: 24 October 2019
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A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion
- First Published: 11 August 2021
Human Mutation
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BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry
- First Published: 21 May 2019
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Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss
- First Published: 23 July 2022
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Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus
- First Published: 16 July 2022