CrossRef Text and Data Mining
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A homozygous mutation in the insulin gene (INS) causing autosomal recessive neonatal diabetes in Saudi families
Adnan Al Shaikh, Bader Shirah, Somaya Alzelaye
Ann Pediatr Endocrinol Metab. 2020;25(1):42-45.   Published online March 31, 2020
DOI: https://doi.org/10.6065/apem.2020.25.1.42

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A homozygous mutation in the insulin gene (INS) causing autosomal recessive neonatal diabetes in Saudi families
Annals of Pediatric Endocrinology & Metabolism. 2020;25(1):42-45   Crossref logo
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A novel case of homozygous LDLRAP1 gene mutation causing autosomal recessive familial hypercholesterolemia in Kuwait
Atherosclerosis. 2020;315:e221   Crossref logo
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Autosomal recessive isolated familial acanthosis nigricans in a Pakistani family due to a homozygous mutation in the insulin receptor gene
British Journal of Dermatology. 2013;169(2):476-478   Crossref logo
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Homozygous Missense Mutation on Exon 22 of PKHD1 Gene Causing Fatal Autosomal Recessive Polycystic Kidney Disease
Journal of Child Science. 2021;11(01):e70-e73   Crossref logo
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Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene
Pediatric Diabetes. 2011;13(6):e26-e29   Crossref logo
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Childhood Onset of Sulfonylurea Responsive Neonatal Diabetes Due to a Novel Homozygous Autosomal Recessive Mutation in the ABCC8 Gene which was Presumed to be Type 1B Diabetes Before Genetic Analysis
AACE Clinical Case Reports. 2016;2(2):e117-e121   Crossref logo
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A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract
Journal of Human Genetics. 2015;61(2):177-179   Crossref logo
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Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families
Gene. 2014;534(2):265-271   Crossref logo
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Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism
Parkinsonism & Related Disorders. 2016;31:124-128   Crossref logo
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Mutation detection of Pakistani families with autosomal recessive retinal dystrophies
Acta Ophthalmologica. 2017;95:   Crossref logo
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