Papers matching “autosomal recessive inheritance” 50
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Congenital Glaucoma in Patients with Neonatal Diabetes and Congenital Hypothyroidism (NDH) Syndrome2025 Klinische Monatsblätter für Augenheilkunde article Biochemistry, Genetics and Molecular Biology Ocular Disorders and Treatments
Julia Prinz, Felix Schreiner, Pascal Schipper, Claus Cursiefen, Karl Mercieca, Verena Prokosch
0citations -
Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gaps On behalf of the European calcified tissue society and ERN BOND2024 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Bone Metabolism and Diseases Open access
Thomas Funck‐Brentano, M. Carola Zillikens, Gavin P. R. Clunie, Heide Siggelkow, Natasha M. Appelman‐Dijkstra, Martine Esther Cohen-Solal
19citations -
Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum2023 Survey of Ophthalmology review Biochemistry, Genetics and Molecular Biology Diabetes and associated disorders Open access
Cansu de Muijnck, Jacoline B. ten Brink, Arthur A B Bergen, Camiel J. F. Boon, Maria M. van Genderen
38citations -
Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC12021 Hormone Research in Paediatrics article Medicine Telomeres, Telomerase, and Senescence Open access
Joel Riquelme, Sanami Takada, Tessa van Dijk, Merel W. Boogaard, Hermine A. van Duyvenvoorde, Ingrid Pico‐Knijnenburg, +4 more
10citations -
monarch-initiative/mondo: v2026-01-062026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Nicole Vasilevsky, Chris J Mungall, Nicolas Matentzoglu, Sabrina Toro, Trish Whetzel, MeeSiing Ngu, +20 more
0citations -
Recommendations for diagnosis and treatment of methemoglobinemia2021 American Journal of Hematology article Medicine Methemoglobinemia and Tumor Lysis Syndrome Open access cited by 1 patent
Achille Iolascon, Paola Ilaria Bianchi, Immacolata Andolfo, Roberta Russo, Wilma Barcellini, Elisa Fermo, +15 more
243citations -
Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco2023 Bone Reports article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Larissa Mattern, Matthias Begemann, Heide Delbrück, Petra Holschbach, Silvia Schröder, Ingo Kurth, +1 more
6citations -
monarch-initiative/mondo: v2026-09-012026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Nicole Vasilevsky, Chris J Mungall, Nicolas Matentzoglu, Sabrina Toro, MeeSiing Ngu, Trish Whetzel, +21 more
0citations -
European Guidelines on Diagnosis and Treatment of Phenylketonuria: First Revision2025 Springer eBooks book-chapter Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Annemiek M. J. van Wegberg, Anita MacDonald, Kirsten Ahring, Amaya Bélanger-Quintana, Skadi Beblo, Nenad Blau, +12 more
99citations -
LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS—SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED2021 Retina article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access cited by 1 patent
Bart Peter Leroy, David G. Birch, Jacque L. Duncan, Byron L. Lam, Robert K. Koenekoop, Fernanda Belga Ottoni Porto, +2 more
61citations -
A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR)2024 Graefe s Archive for Clinical and Experimental Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Berith M. Balfoort, Filip Van den Broeck, Marion M. M. G. Brands, Clara D. van Karnebeek, Arthur A B Bergen, L. Ingeborgh van den Born, +6 more
10citations -
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
Daniel G. Calame, Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih, +58 more
9citations -
monarch-initiative/mondo: v2026-02-032026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
Nicole Vasilevsky, Chris J Mungall, Nicolas Matentzoglu, Sabrina Toro, Trish Whetzel, MeeSiing Ngu, +21 more
0citations