Results 231 to 240 of about 269,697 (252)

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity

Clinical Genetics, 1998
Two unrelated families with familial exudative vitreoretinopathy (FEVR) show apparent autosomal recessive inheritance rather than the previously reported autosomal dominant or X-linked recessive mode of inheritance.
Francesca Simonelli, Francesco Testa, Alfredo Ciccodicola   +2 more
exaly   +4 more sources

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Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)

Kidney International, 2005
Jan Senderek, Tomáš Seeman, Jutta Kirfel   +2 more
exaly  

Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies

Neuron, 2019
Ludger Schöls, Matthis Synofzik, Fanny Mochel   +2 more
exaly  

A novel KERAmutation associated with autosomal recessive cornea plana

Ophthalmic Genetics, 2004
Marios Kambouris
exaly  

Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions†

American Journal of Medical Genetics, Part A, 2012
Zuhair Al-Hassnan, Hamad Al-Zaidan, Mohammed Al-Owain   +2 more
exaly  

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases

EBioMedicine, 2020
Konrad Oexle, Saskia B Wortmann, Matias Wagner   +2 more
exaly  

Autosomal Recessive Osteopetrosis: Variability of Findings at Diagnosis and During the Natural Course

Pediatrics, 1994
Claude Griscelli
exaly  

A case of autosomal recessive hypercholesterolemia responsive to proprotein convertase subtilisin/kexin 9 inhibition

Journal of Clinical Lipidology, 2017
Elisabeth Steinhagen-Thiessen
exaly