Ferreira Carlos R

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117 Clinical and Immunologic Phenotype of Prolidase Deficiency

Iris Martin, Jacob Lerman, Ana Agharahimi,Justina Pfister,Deborah Stone,Amanda Ombrello,Carlos Ferreira, Daniel Kastner,Ivona Aksentijevich,Alexandra Freeman

Clinical Immunology (2024)

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P676: Deciphering the collagen code: Navigating variant curation complexities in skeletal disorders

Pamela Ajuyah Robertson,Alicia Byrne, Julie Ratliff, Audrey O'Neill,Marina DiStefano, Deepika Burkardt,Carlos Ferreira, Kerry Brown

Genetics in Medicine Open (2024): 101580

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Pilot study to evaluate the safety and effectiveness of etidronate treatment for arterial calcification due to deficiency of CD73 (ACDC)

Elisa A Ferrante,Cornelia D Cudrici, Mahmood Rashidi,Yi-Ping Fu,Rebecca Huffstutler,Katherine Carney,Marcus Y Chen,Cynthia St Hilaire, Kevin Smith, Hadi Bagheri,James D Katz,Carlos R Ferreira,

Vascular medicine (London, England)pp.1358863X241235669-1358863X241235669, (2024)

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ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency

Carlos R. Ferreira,Thomas O. Carpenter,Demetrios T. Braddock

ANNUAL REVIEW OF PATHOLOGY-MECHANISMS OF DISEASE（2024）

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Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases

Anke Schumann,Ulla T Schultheiss,Carlos R Ferreira,Nenad Blau

Molecular genetics and metabolism（2023）

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Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities

Eoghan Dunlea,Ellen Crushell,Melanie Cotter,Nenad Blau,Carlos R. Ferreira

MOLECULAR GENETICS AND METABOLISMno. 4 (2023): 107735-107735

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Nosology of genetic skeletal disorders: 2023 revision

Sheila Unger,Carlos R Ferreira,Geert R Mortier,Houda Ali,Débora R Bertola,Alistair Calder,Daniel H Cohn,Valerie Cormier-Daire,Katta M Girisha,Christine Hall,Deborah Krakow,Outi Makitie,

American journal of medical genetics. Part Ano. 5 (2023): 1164-1209

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Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation

Sarah Fazal,Matt C. Danzi,Andre B. P. van Kuilenburg,Selina Reich,Andreas Traschutz,Benjamin Bender,Rene Leen,Camilo Toro,Karen Usdin,Bruce Hayward,David R. Adams,Clara D. M. van Karnebeek,

HUMAN MOLECULAR GENETICS（2023）

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Clinical and biochemical footprints of inherited metabolic diseases. XV. Epilepsies

Itay Tokatly Latzer,Nenad Blau,Carlos R Ferreira,Phillip L Pearl

Molecular genetics and metabolismno. 3 (2023): 107690-107690

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Generation and Characterization of Fgfr1+/N330I Mice as a Model for Osteoglophonic Dysplasia

Giuliana Ascone,Cecilia Rivas, Elsa Escobar,Tannia S. Clark, Irene Ginty,Dawn Watkins-Chow, Gene Elliot,Lisa Garrett,Carlos R. Ferreira

JOURNAL OF BONE AND MINERAL RESEARCH (2023): 291-292

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论文共 210 篇作者统计合作学者相似作者