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  • 1-10 ل  126 نتائج ل ""Osteochondrodysplasias""

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Publisher : biomed central
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Academic Journal

Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.

  • Authors : Li S; Department of Molecular Orthopaedics, National Center for Orthopaedics, Beijing Research Institute of Traumatology and Orthopaedics, Beijing Jishuitan Hospital, Capital Medical University, Beijing, China.; Sheng Y

Subjects: Chondrocytes*/Chondrocytes*/Chondrocytes*/metabolism ; Chondrocytes*/Chondrocytes*/Chondrocytes*/pathology ; Sulfate Transporters*/Sulfate Transporters*/Sulfate Transporters*/genetics

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jul 02; Vol. 19 (1), pp. 245. Date of Electronic Publication: 2024 Jul 02.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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Academic Journal

Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients.

  • Authors : Arponen H; Department of Oral and Maxillofacial Diseases, Helsinki University Hospital Head and Neck Center, University of Helsinki, Haartmaninkatu 1, Helsinki, Finland. .; Pediatric Research Center, Children's Hospital, University of Helsinki, Helsinki University Hospital, Helsinki, Finland. .

Subjects: Hair*/Hair*/Hair*/abnormalities ; Hirschsprung Disease* ; Microbiota* Cartilage-hair hypoplasia

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Apr 18; Vol. 19 (1), pp. 169. Date of Electronic Publication: 2024 Apr 18.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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Academic Journal

Assessment of 3.0 Tesla magnetic resonance imaging in Madelung's deformity: findings and implications.

  • Authors : Ma Y; Department of Radiology, Beijing Jishuitan Hospital, Capital Medical University, Beijing, China.; Guo Z

Subjects: Ulna* ; Radius* ; Growth Disorders* Madelung Deformity

  • Source: BMC musculoskeletal disorders [BMC Musculoskelet Disord] 2024 Feb 12; Vol. 25 (1), pp. 133. Date of Electronic Publication: 2024 Feb 12.Publisher: BioMed Central Country of Publication: England NLM ID: 100968565 Publication Model: Electronic Cited Medium:

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Academic Journal

Review of published 467 achondroplasia patients: clinical and mutational spectrum.

  • Authors : Zhang X; Department of Endocrinology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, 250012, China.; Jiang S

Subjects: Genu Valgum* ; Achondroplasia*/Achondroplasia*/Achondroplasia*/genetics ; Achondroplasia*/Achondroplasia*/Achondroplasia*/pathology

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jan 27; Vol. 19 (1), pp. 29. Date of Electronic Publication: 2024 Jan 27.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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Academic Journal

Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.

  • Authors : Peng Y; Prenatal Diagnosis Center, National Health Commission Key Laboratory of Birth Defects for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410008, Hunan, China, No. 53 Xiangchun Road. .; Zhou L

Subjects: Ellis-Van Creveld Syndrome*/Ellis-Van Creveld Syndrome*/Ellis-Van Creveld Syndrome*/diagnostic imaging ; Ellis-Van Creveld Syndrome*/Ellis-Van Creveld Syndrome*/Ellis-Van Creveld Syndrome*/genetics ; Osteochondrodysplasias*

  • Source: BMC medical genomics [BMC Med Genomics] 2023 Dec 07; Vol. 16 (1), pp. 318. Date of Electronic Publication: 2023 Dec 07.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium:

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Academic Journal

Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine.

  • Authors : Zhang W; Beijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Beijing Pediatric Research Institute, Capital Medical University, National Center for Children's Health, Beijing, China.; Yao Z

Subjects: Amelogenesis Imperfecta*/Amelogenesis Imperfecta*/Amelogenesis Imperfecta*/genetics ; Amelogenesis Imperfecta*/Amelogenesis Imperfecta*/Amelogenesis Imperfecta*/surgery ; Dwarfism*/Dwarfism*/Dwarfism*/genetics

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Nov 30; Vol. 18 (1), pp. 371. Date of Electronic Publication: 2023 Nov 30.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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Academic Journal

An estimation of osteochondrodysplasia prevalence in Australian Scottish Fold cats: a retrospective study using VetCompass Data.

  • Authors : Velie BD; School of Life and Environmental Sciences, Faculty of Science, The University of Sydney, Camperdown, 2006 NSW, Australia.; Milden T

Subjects: Osteochondrodysplasias*/Osteochondrodysplasias*/Osteochondrodysplasias*/veterinary ; Cat Diseases*/Cat Diseases*/Cat Diseases*/epidemiology; Male

  • Source: BMC veterinary research [BMC Vet Res] 2023 Nov 29; Vol. 19 (1), pp. 252. Date of Electronic Publication: 2023 Nov 29.Publisher: BioMed Central Country of Publication: England NLM ID: 101249759 Publication Model: Electronic Cited Medium:

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Academic Journal

The favorable outcome of Bernese periacetabular osteotomy for the hip osteoarthritis in multiple epiphyseal dysplasia.

  • Authors : Chang YY; Departments of Orthopedic Surgery, National Taiwan University Hospital, No.7, Chung Shan S. Rd., Taipei City, 100, Taiwan.; Lee CC

Subjects: Osteoarthritis, Hip*/Osteoarthritis, Hip*/Osteoarthritis, Hip*/etiology ; Osteoarthritis, Hip*/Osteoarthritis, Hip*/Osteoarthritis, Hip*/surgery ; Osteochondrodysplasias*

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Oct 30; Vol. 18 (1), pp. 340. Date of Electronic Publication: 2023 Oct 30.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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Academic Journal

Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, China.

  • Authors : Liu W; Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No.1095 Jiefang Avenue, Wuhan, 430030, China.; Cao J

Subjects: DNA Copy Number Variations* ; Osteochondrodysplasias*/Osteochondrodysplasias*/Osteochondrodysplasias*/genetics; Humans

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Oct 25; Vol. 18 (1), pp. 336. Date of Electronic Publication: 2023 Oct 25.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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Academic Journal

The burden of hospital admissions for skeletal dysplasias in Sri Lanka: a population-based study.

  • Authors : Kolambage YD; Department of Anatomy, Faculty of Medicine, Sabaragamuwa University of Sri Lanka, Ratnapura, Sri Lanka. .; Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka. .

Subjects: Osteogenesis Imperfecta*/Osteogenesis Imperfecta*/Osteogenesis Imperfecta*/epidemiology ; COVID-19* ; Osteochondrodysplasias*

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Sep 08; Vol. 18 (1), pp. 279. Date of Electronic Publication: 2023 Sep 08.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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  • 1-10 ل  126 نتائج ل ""Osteochondrodysplasias""