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中国与美国儿童青少年1型糖尿病患者 发病年龄对生长发育的影响.

• Authors : 黄文雨; 武超; 王振乾

• Source: Chinese Journal of Diabetes Mellitus; Aug2023, Vol. 15 Issue 8, p727-733, 7p

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HPRT1 基因变异致 Lesch-Nyhan 综合征的产前诊断及遗传咨询.

• Authors : 郜珊珊; 代鹏; 赵干业

• Source: Journal of International Obstetrics & Gynecology; Jun2022, Vol. 49 Issue 3, p345-349, 5p

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妊娠期单纯低甲状腺素血症的危险因素和对母婴结局的影响.

• Authors : 李宝娟; 刘慧坤; 董微

• Source: Journal of International Obstetrics & Gynecology; Feb2022, Vol. 49 Issue 1, p71-76, 6p

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[Analysis of genetic etiology in a patient with 1p36 deletion syndrome in conjunct with Snijders Blok-Campeau syndrome].

• Authors : Chen H; School of Public Health, Gansu University of Traditional Chinese Medicine, Lanzhou, Gansu 730030, China. .; Zhang C

Subjects: Chromosome Disorders* ; Hypertelorism* ; Intellectual Disability* Chromosome 1p36 Deletion Syndrome; Snijders Blok-Campeau 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] 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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[A case of immunoskeletal dysplasia with neurodevelopmental abnormalities].

• Authors : Lin QQ; Department of Neonatology, Xiamen Hospital (Xiamen Children's Hospital), Children's Hospital of Fudan University, Xiamen 361000, China.; Wu XY

Subjects: Developmental Disabilities* ; Bronchopulmonary Dysplasia*; Humans

• Source: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2024 Jan 02; Vol. 62 (1), pp. 76-77.Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium:

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[Genetic analysis of a child with developmental disorder and epilepsy due to a homozygous variant of PIGW gene].

• Authors : Zeng J; Operation Room, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong 510623, China. .; Tian Y

Subjects: Developmental Disabilities* ; Epilepsy*/Epilepsy*/Epilepsy*/genetics; Child, Preschool

• 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 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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[Analysis of clinical characteristics and genetic variant in a child with Nicolaides-Baraitser syndrome due to maternal mosaicism].

• Authors : Liu X; Department of Pediatrics, the Sixth Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510655, China. .; Yang Q

Subjects: Mosaicism* ; Parents*; Child Nicolaides Baraitser 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 Dec Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Health equality and equity in health care utilization among children in Taiwan.

• Authors : CHAO-CHIN SHERINA LEE; JUI-FEN RACHEL LU

Subjects: CHILD health services; MEDICAL care use; HEALTH equityTAIWAN

• Source: Taiwan Journal of Publich Health / Taiwan Gong Gong Wei Sheng Za Zhi; Oct2013, Vol. 32 Issue 5, p449-462, 14p

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[Analysis of gene variant in an infant with succinic semialdehyde dehydrogenase deficiency].

• Authors : Yan D; Tianjin Children's Hospital (Children's Hospital of Tianjin University), Tianjin 300134, China. .; Xu X

Subjects: Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/genetics ; Succinate-Semialdehyde Dehydrogenase*/Succinate-Semialdehyde Dehydrogenase*/Succinate-Semialdehyde Dehydrogenase*/deficiency ; Succinate-Semialdehyde Dehydrogenase*/Succinate-Semialdehyde Dehydrogenase*/Succinate-Semialdehyde Dehydrogenase*/geneticssuccinic semialdehyde dehydrogenase deficiency

• 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 Feb Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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