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Academic Journal

[Clinical phenotype and genetic analysis of six Chinese patients affected with Acromicric dysplasia due to variants of FBN1 gene].

  • Authors : Yu M; Department of Child Health Care, the Affiliated Hospital of Qingdao University, Qingdao, Shandong 266003, China. .; Liu X

Subjects: Limb Deformities, Congenital* ; Dwarfism* ; Bone Diseases, Developmental*Acromicric dysplasia

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Mar Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

[Osteofibrous dysplasia-like adamantinoma: report of a case].

  • Authors : Liu XQ; Department of Pathology, 73rd Group Military Hospital of the People's Liberation Army of China and the Affiliated Chenggong Hospital of Xiamen University, Xiamen 361000, China.; Shen YL

Subjects: Adamantinoma*/Adamantinoma*/Adamantinoma*/surgery ; Bone Diseases, Developmental* ; Bone Neoplasms*/Bone Neoplasms*/Bone Neoplasms*/diagnostic imaging Osteofibrous Dysplasia

  • Source: Zhonghua bing li xue za zhi = Chinese journal of pathology [Zhonghua Bing Li Xue Za Zhi] 2023 Dec 08; Vol. 52 (12), pp. 1287-1289.Publisher: Zhonghua Yixuehui Country of Publication: China NLM ID: 0005331 Publication Model: Print Cited Medium: Print ISSN: 0529-5807 (Print)

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Academic Journal

[Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses].

  • Authors : Tan DD; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.; Liu YD

Subjects: Abnormalities, Multiple* ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics ; Bone Diseases, Developmental*/Bone Diseases, Developmental*/Bone Diseases, Developmental*/complications Cerebral Cavernous Malformations 3

  • Source: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2023 Apr 02; Vol. 61 (4), pp. 345-350.Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium:

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Academic Journal

[Clinical and genetic analysis of three children with KBG syndrome due to novel variants of ANKRD11 gene].

  • Authors : Wang L; Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. .; Li J

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

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2023 Jan Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

[Audiological phenotypes of KBG syndrome: a case report and literatures review].

  • Authors : Su W; Department of Otolaryngology Head and Neck Surgery,Peking University First Hospital,Beijing,100032,China.; Xia Y

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

  • Source: Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery [Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi] 2022 Oct; Vol. 36 (10),Publisher: Lin chuang er bi yan hou tou jing wai ke za zhi bain ji bu Country of Publication: China NLM ID: 101303164 Publication Model: Print Cited Medium:

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Academic Journal

[CNV-seq analysis of copy number variations in 217 fetuses with nasal bone dysplasia].

  • Authors : Shi P; Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. .; Hou Y

Subjects: Bone Diseases, Developmental* ; Down Syndrome*/Down Syndrome*/Down Syndrome*/genetics; Aneuploidy

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2022 Oct Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

[Analysis of three patients with KBG syndrome and epileptic seizures due to variants of ANKRD11 gene].

  • Authors : Liu C; Department of Neurology, the First Affiliated Hospital of Air Force Military Medical University, Xi'an, Shaanxi 710032, China. .; Ren X

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

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2022 May Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

[Osteofibrous dysplasia-like adamantinoma of bone: a clinicopathological study of five cases].

  • Authors : Guo JZ; Department of Nephrology, No.986 Hospital of Xijing, the Fourth Military Medical University, Xi'an 710054, China.; Zhang XW

Subjects: Adamantinoma*/Adamantinoma*/Adamantinoma*/diagnostic imaging ; Adamantinoma*/Adamantinoma*/Adamantinoma*/surgery ; Bone Diseases, Developmental* Osteofibrous Dysplasia

  • Source: Zhonghua bing li xue za zhi = Chinese journal of pathology [Zhonghua Bing Li Xue Za Zhi] 2021 Aug 08; Vol. 50 (8), pp. 943-945.Publisher: Zhonghua Yixuehui Country of Publication: China NLM ID: 0005331 Publication Model: Print Cited Medium: Print ISSN: 0529-5807 (Print)

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Academic Journal

[Prenatal genetic diagnosis of a partial 21 trisomy fetus with nasal bone dysplasia].

  • Authors : Zhang J; Women and Children's Hospital Affiliated to Xiamen University, Central Laboratory of Xiamen Maternal and Child Health Care Hospital, Xiamen, Fujian 361003, China. .; Chen X

Subjects: Prenatal Diagnosis* ; Trisomy*/Trisomy*/Trisomy*/diagnosis ; Trisomy*/Trisomy*/Trisomy*/genetics

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Oct Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

[Clinical analysis of 21 cases with short fetal femur in the third trimester].

  • Authors : Ren Y; Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing 100853, China.; You YQ

Subjects: Ultrasonography, Prenatal*; Bone Diseases, Developmental/Bone Diseases, Developmental/Bone Diseases, Developmental/*diagnostic imaging ; Femur/Femur/Femur/*abnormalities Pallister Killian syndrome

  • Source: Zhonghua fu chan ke za zhi [Zhonghua Fu Chan Ke Za Zhi] 2017 Feb 25; Vol. 52 (2), pp. 86-92.Publisher: Chinese Medical Association Country of Publication: China NLM ID: 16210370R Publication Model: Print Cited Medium:

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  • 1-10 of  41 results for ""Bone Diseases, Developmental""