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Phenotyping: targeting genotype's rich cousin for diagnosis.
Baynam G, Walters M, Claes P, Kung S, LeSouef P, Dawkins H, Bellgard M, Girdea M, Brudno M, Robinson P, Zankl A, Groza T, Gillett D, Goldblatt J. Baynam G, et al. Among authors: robinson p. J Paediatr Child Health. 2015 Apr;51(4):381-6. doi: 10.1111/jpc.12705. Epub 2014 Aug 11. J Paediatr Child Health. 2015. PMID: 25109851 Review.
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.
Forwood C, Ashton K, Zhu Y, Zhang F, Dias KR, Standen K, Evans CA, Carey L, Cardamone M, Shalhoub C, Katf H, Riveros C, Hsieh TC, Krawitz P, Robinson PN, Dudding-Byth T, Sadikovic B, Pinner J, Buckley MF, Roscioli T. Forwood C, et al. Among authors: robinson pn. Am J Med Genet C Semin Med Genet. 2023 Sep;193(3):e32056. doi: 10.1002/ajmg.c.32056. Epub 2023 Aug 31. Am J Med Genet C Semin Med Genet. 2023. PMID: 37654076 Free PMC article.
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.
Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M, Crowley S, Kinsler V, Ewins AM, Madapura PM, Patel M, Pontikos N, Codd V, Vulliamy T, Dokal I. Tummala H, et al. Among authors: robinson p. Am J Hum Genet. 2022 Aug 4;109(8):1472-1483. doi: 10.1016/j.ajhg.2022.06.014. Am J Hum Genet. 2022. PMID: 35931051 Free PMC article.
The European Diploma in Musculoskeletal Radiology; Past, Present, and Future.
Adriaensen M, Rupreht M, Martinoli C, Vanhoenacker F, Robinson P, Drakonaki E. Adriaensen M, et al. Among authors: robinson p. Semin Musculoskelet Radiol. 2024 Jun;28(3):352-355. doi: 10.1055/s-0044-1781430. Epub 2024 May 20. Semin Musculoskelet Radiol. 2024. PMID: 38768599 Review.
Childhood screening for type 1 diabetes comparing automated multiplex Antibody Detection by Agglutination-PCR (ADAP) with single plex islet autoantibody radiobinding assays.
Lind A, Freyhult E, de Jesus Cortez F, Ramelius A, Bennet R, Robinson PV, Seftel D, Gebhart D, Tandel D, Maziarz M, Larsson HE, Lundgren M, Carlsson A, Nilsson AL, Fex M, Törn C, Agardh D, Tsai CT, Lernmark Å; Better Diabetes Diagnosis (BDD) study group. Lind A, et al. Among authors: robinson pv. EBioMedicine. 2024 May 8;104:105144. doi: 10.1016/j.ebiom.2024.105144. Online ahead of print. EBioMedicine. 2024. PMID: 38723553 Free PMC article.
A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome.
Werren EA, Kalsner L, Ewald J, Peracchio M, King C, Vats P, Audano PA, Robinson PN, Adams MD, Kelly MA, Matson AP. Werren EA, et al. Among authors: robinson pn. bioRxiv [Preprint]. 2024 Apr 22:2024.04.18.590108. doi: 10.1101/2024.04.18.590108. bioRxiv. 2024. PMID: 38712026 Free PMC article. Preprint.
Guideline for the management of Clostridioides difficile infection in pediatric patients with cancer and hematopoietic cell transplantation recipients: 2024 update.
Patel P, Robinson PD, Fisher BT, Phillips R, Morgan JE, Lehrnbecher T, Kuczynski S, Koenig C, Haeusler GM, Esbenshade A, Elgarten C, Duong N, Diorio C, Castagnola E, Beauchemin MP, Ammann RA, Dupuis LL, Sung L. Patel P, et al. Among authors: robinson pd. EClinicalMedicine. 2024 Apr 20;72:102604. doi: 10.1016/j.eclinm.2024.102604. eCollection 2024 Jun. EClinicalMedicine. 2024. PMID: 38680517 Free PMC article. Review.
4,352 results