Molecular confirmation of the causes of inherited visual impairment in Northern Pakistan [PDF]
, 2009 Families with inherited visual impairment were identified and examined from January 2000 to December 2005 and given a clinical diagnosis. Known genes and loci were screened for mutations or linkage at Institute of Ophthalmology and Neurosciences ...
Adhi, Mehreen +4 more
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Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome [PDF]
, 2019 M. Cristina Digilio +4 more
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Bardet–Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations [PDF]
, 2020 Naoya Morisada +6 more
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Molecular basis of the obesity associated with Bardet–Biedl syndrome
, 2011 Deng‐Fu Guo, Kamal Rahmouni
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Multifocal electroretinogram contributes to differentiation of various clinical pictures within a family with Bardet–Biedl syndrome [PDF]
, 2014 Anna Praidou +3 more
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Impaired IGF1-GH axis and new therapeutic options in Alström Syndrome patients: a case series [PDF]
, 2009 Cristina Maria Mihai +46 more
core +1 more source
Motor-Dominant Peripheral Neuropathy, Polydactyly, Mental Retardation, Kidney Failure, Diabetes Mellitus, and Developmental Delay in the Absence of Retinal Dystrophy: Spectrum of Bardet-Biedl Syndrome (BBS) [PDF]
, 2019 Hiroyuki Morita
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Bardet-Biedl Syndrome 4 in Early Diagnosis and Prognosis of Breast Cancer [PDF]
, 2021 H. Zhang +4 more
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