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Academic Journal

Allogeneic bone marrow transplantation in craniometaphyseal dysplasia.

  • Authors : Morelle G; Unité d'Immunologie, d'Hématologie et de Rhumatologie Pédiatriques, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Université Paris Cité, Paris, France; Centre de Référence de l'Hémophilie et des Maladies Hémorragiques Constitutionnelles, Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Université Paris-Saclay, Le Kremlin-Bicêtre, France.

Subjects: Bone Diseases, Developmental*/Bone Diseases, Developmental*/Bone Diseases, Developmental*/surgery ; Bone Diseases, Developmental*/Bone Diseases, Developmental*/Bone Diseases, Developmental*/diagnostic imaging ; Bone Marrow Transplantation*/Bone Marrow Transplantation*/Bone Marrow Transplantation*/methodsSchwartz-Lelek syndrome

  • Source: Lancet (London, England) [Lancet] 2024 May 11; Vol. 403 (10439), pp. 1893-1894.Publisher: Elsevier Country of Publication: England NLM ID: 2985213R Publication Model: Print Cited Medium: Internet

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Academic Journal

Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?

  • Authors : Maden Bedel F; Department of Pediatric Genetics, Meram Medical School, Necmettin Erbakan University, Konya, Turkey. Electronic address: .; Balasar Ö

Subjects: Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics ; Short Rib-Polydactyly Syndrome* ; Bone Diseases, Developmental*/Bone Diseases, Developmental*/Bone Diseases, Developmental*/genetics Lenz Majewski hyperostotic dwarfism

  • Source: European journal of medical genetics [Eur J Med Genet] 2024 Apr; Vol. 68, pp. 104910. Date of Electronic Publication: 2024 Jan 21.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.

  • Authors : van der Laan L; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Karimi K

Subjects: Autism Spectrum Disorder*/Autism Spectrum Disorder*/Autism Spectrum Disorder*/genetics ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/diagnosis Fountain syndrome

  • Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Mar; Vol. 26 (3), pp. 101050. Date of Electronic Publication: 2023 Dec 18.Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Life span care for patients with skeletal dysplasia: A roadmap.

  • Authors : Nijhuis WH; Department of Orthopedic Surgery, University Medical Center Utrecht, 3508 GA, Utrecht, the Netherlands. Electronic address: .; Verhoef M

Subjects: Osteochondrodysplasias*/Osteochondrodysplasias*/Osteochondrodysplasias*/genetics ; Osteochondrodysplasias*/Osteochondrodysplasias*/Osteochondrodysplasias*/therapy ; Osteochondrodysplasias*/Osteochondrodysplasias*/Osteochondrodysplasias*/diagnosis

  • Source: European journal of medical genetics [Eur J Med Genet] 2023 Nov; Vol. 66 (11), pp. 104851. Date of Electronic Publication: 2023 Sep 25.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Disruption of hedgehog signaling leads to hyoid bone dysplasia during embryogenesis.

  • Authors : Guo Y; Department of Oral and Maxillofacial Surgery, Fujian Medical University Union Hospital, Fuzhou, Fujian, China; Fujian Key Laboratory of Oral Diseases & Stomatological Key Lab of Fujian College and University, School and Hospital of Stomatology, Fujian Medical University, China.

Subjects: Hedgehog Proteins*/Hedgehog Proteins*/Hedgehog Proteins*/genetics ; Hedgehog Proteins*/Hedgehog Proteins*/Hedgehog Proteins*/metabolism ; Bone Diseases, Developmental*

  • Source: Differentiation; research in biological diversity [Differentiation] 2023 May-Jun; Vol. 131, pp. 82-88. Date of Electronic Publication: 2023 May 08.Publisher: Elsevier Country of Publication: England NLM ID: 0401650 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Human skeletal dysplasia causing L596P-mutant alters the conserved amino acid pattern at the lipid-water-Interface of TRPV4.

  • Authors : Das R; School of Biological Sciences, National Institute of Science Education and Research, HBNI, Khordha, Jatni, Odisha 752050, India; Homi Bhabha National Institute, Training School Complex, Anushakti Nagar, Mumbai 400094, India.

Subjects: Bone Diseases, Developmental*/Bone Diseases, Developmental*/Bone Diseases, Developmental*/genetics ; Channelopathies*/Channelopathies*/Channelopathies*/genetics ; TRPV Cation Channels*/TRPV Cation Channels*/TRPV Cation Channels*/genetics

  • Source: Biochimica et biophysica acta. Biomembranes [Biochim Biophys Acta Biomembr] 2023 Feb; Vol. 1865 (2), pp. 184085. Date of Electronic Publication: 2022 Nov 17.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101731713 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

A comparative study of surgical outcomes between anterior cervical discectomy with fusion and selective laminoplasty for cervical spondylotic myelopathy.

  • Authors : Sakai K; Department of Orthopedic Surgery, Saiseikai Kawaguchi General Hospital, Japan.; Yoshii T

Subjects: Laminoplasty*/Laminoplasty*/Laminoplasty*/methods ; Lordosis* ; Spinal Fusion*/Spinal Fusion*/Spinal Fusion*/methods

  • Source: Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association [J Orthop Sci] 2022 Nov; Vol. 27 (6), pp. 1228-1233. Date of Electronic Publication: 2021 Publisher: Elsevier Country of Publication: Japan NLM ID: 9604934 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

  • Authors : de Boer E; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.

Subjects: Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/genetics ; Bone Diseases, Developmental*/Bone Diseases, Developmental*/Bone Diseases, Developmental*/etiology ; Bone Diseases, Developmental*/Bone Diseases, Developmental*/Bone Diseases, Developmental*/genetics KBG syndrome

  • Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Oct; Vol. 24 (10), pp. 2051-2064. Date of Electronic Publication: 2022 Jul 14.Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium:

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Editorial & Opinion

Anesthetic management of a pediatric patient with epidermolysis bullosa simplex undergoing spinal fusion.

  • Authors : Chen K; Department of Anesthesiology and Perioperative Medicine, Kingston Health Sciences Centre, Queen's University, Canada. Electronic address: .; Borschneck D

Subjects: Anesthetics* ; Bone Diseases, Developmental* ; Epidermolysis Bullosa*/Epidermolysis Bullosa*/Epidermolysis Bullosa*/complications

  • Source: Journal of clinical anesthesia [J Clin Anesth] 2022 Feb; Vol. 76, pp. 110568. Date of Electronic Publication: 2021 Oct 30.Publisher: Elsevier Country of Publication: United States NLM ID: 8812166 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Osteofibrous Dysplasia and Adamantinoma.

  • Authors : Nascimento AF; Department of Pathology, University Hospitals Cleveland Medical Center, 11100 Euclid Avenue, Cleveland, OH 44106, USA.; Kilpatrick SE

Subjects: Adamantinoma*/Adamantinoma*/Adamantinoma*/diagnosis ; Bone Diseases, Developmental*/Bone Diseases, Developmental*/Bone Diseases, Developmental*/diagnosis ; Bone Diseases, Developmental*/Bone Diseases, Developmental*/Bone Diseases, Developmental*/genetics Osteofibrous Dysplasia

  • Source: Surgical pathology clinics [Surg Pathol Clin] 2021 Dec; Vol. 14 (4), pp. 723-735. Date of Electronic Publication: 2021 Oct 07.Publisher: Elsevier Country of Publication: United States NLM ID: 101491209 Publication Model: Print-Electronic Cited Medium:

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  • 1-10 of  250 results for ""Bone Diseases, Developmental""