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Academic Journal

Novel OBSL1 Variant in a Chinese Patient with 3M Syndrome: The c.458dupG Mutation May Be a Potential Hotspot Mutation in the Chinese Population

  • Authors : Piao Y; National Center for Children’s Health, Capital Medical University, Beijing Children’s Hospital, Clinic of Immunity, Beijing, China; Li R

Subjects: Muscle Hypotonia*/Muscle Hypotonia*/Muscle Hypotonia*/genetics ; Mutation* ; Asian People*/Asian People*/Asian People*/genetics Miller-McKusick-Malvaux-Syndrome (3M Syndrome)

  • Source: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 Dec 04; Vol. 16 (4), pp. 501-506. Date of Electronic Publication: 2024 Feb 26.Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A novel variant in NSUN2 causes intellectual disability in a Chinese family.

  • Authors : Yang Q; Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, No. 59, Xiangzhu Road, Nanning, China.; Department of Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.

Subjects: Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics ; Microcephaly*/Microcephaly*/Microcephaly*/genetics ; Nervous System Malformations*

  • Source: BMC medical genomics [BMC Med Genomics] 2024 Apr 20; Vol. 17 (1), pp. 95. Date of Electronic Publication: 2024 Apr 20.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Academic Journal

Prenatal diagnosis and preimplantation genetics testing of 3M syndrome in a Chinese family with novel biallelic variants of CUL7.

  • Authors : Wang X; Department of Prenatal Screening and Diagnosis Center, Affiliated Maternity and Child Health Care Hospital of Nantong University, Nantong, Jiangsu, China.; Nantong Institute of Genetics and Reproductive Medicine, Affiliated Maternity and Child Health Care Hospital of Nantong University, Nantong, Jiangsu, China.

Subjects: Semen* ; Dwarfism*/Dwarfism*/Dwarfism*/genetics ; Muscle Hypotonia*Miller-McKusick-Malvaux-Syndrome (3M Syndrome)

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2284. Date of Electronic Publication: 2023 Oct 25.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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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 10; Vol. 41 (3), pp. 271-277.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print

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Academic Journal

Residual levels, phase distributions, and human health risks of OCPs in the middle reach of the Huai River, China.

  • Authors : Wang S; Anhui Provincial Engineering Laboratory of Water and Soil Pollution Control and Remediation, School of Ecology and Environment, Anhui Normal University, Wuhu, Anhui, 241002, People's Republic of China.; Wuhu Dongyuan New Country Developing Co., Ltd, Wuhu, Anhui, 241000, People's Republic of China.

Subjects: Pesticides* ; Hydrocarbons, Chlorinated* ; Hexachlorocyclohexane* Hypochondroplasia

  • Source: Environmental science and pollution research international [Environ Sci Pollut Res Int] 2024 Mar; Vol. 31 (14), pp. 22012-22023. Date of Electronic Publication: 2024 Feb 24.Publisher: Springer Country of Publication: Germany NLM ID: 9441769 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1614-7499

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Academic Journal

[Analysis of a child with DIGFAN syndrome due to variant of MORC2 gene].

  • Authors : Xie B; Center for Medical Genetics and Genomics, the Second Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi 530007, China. .; Fan X

Subjects: Adenosine Triphosphatases* ; Dwarfism*/Dwarfism*/Dwarfism*/genetics; Child

  • 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 Feb 10; Vol. 41 (2), pp. 234-238.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print

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Academic Journal

Association between serum uric acid and triglyceride-glucose index in children and adolescents with short stature.

  • Authors : Zhao Q; School of Medicine, Qingdao University, Qingdao, 266071, Shandong, People's Republic of China.; Department of Endocrinology, Affiliated Hospital of Jining Medical University, Jining Medical University, 89 Guhuai Road, Jining, 272029, Shandong, People's Republic of China.

Subjects: Uric Acid* ; Dwarfism*; Female

  • Source: Scientific reports [Sci Rep] 2023 Aug 21; Vol. 13 (1), pp. 13594. Date of Electronic Publication: 2023 Aug 21.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

The portrayal of people with dwarfism in Chinese art.

  • Authors : Wu L; School of Obstetrics and Gynecology, Women's Hospital, Zhejiang University School of Medicine, Zhejiang, Hangzhou, People's Republic of China.; Zhou Y

Subjects: Dwarfism* ; Medicine in the Arts* ; Paintings*

  • Source: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2021 Jun; Vol. 187 (2), pp. 192-198. Date of Electronic Publication: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Molecular characteristics and phylogenetic analysis of novel goose parvovirus strains associated with short beak and dwarfism syndrome.

  • Authors : Li Y; College of Veterinary Medicine, Yangzhou University, 48 Wenhui East Road, 225009, Yangzhou, China.; Jiangsu Co-Innovation Center for Important Animal Infectious Diseases and Zoonosis, Yangzhou, Jiangsu, China.

Subjects: Phylogeny*; Dwarfism/Dwarfism/Dwarfism/*veterinary ; Dwarfism/Dwarfism/Dwarfism/*virology Avian dependoparvovirus 1

  • Source: Archives of virology [Arch Virol] 2021 Sep; Vol. 166 (9), pp. 2495-2504. Date of Electronic Publication: 2021 Jul 07.Publisher: Springer-Verlag Country of Publication: Austria NLM ID: 7506870 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

[Clinical characteristics and genetic analysis of a patient with STISS syndrome due to variant of PSMD12 gene].

  • Authors : Xu L; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China. .; Wang Y

Subjects: Dwarfism*; Child ; Humans

  • 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 Mar 10; Vol. 40 (3), pp. 349-353.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print

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  • 1-10 of  925 results for ""DWARFISM""