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Chinese Families

Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I

Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I

... Chinese families with BPES type I were ascertained through the Shanghai Ninth People’s Hospital of Shanghai Jiaotong University School of Medicine. Nine individuals, including 5 affected individuals, were ...

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Original Article Analysis and prenatal diagnosis of deafness-related gene mutations in patients with fourteen Chinese families

Original Article Analysis and prenatal diagnosis of deafness-related gene mutations in patients with fourteen Chinese families

... hearing loss [16]. The 235 del C mutation was markedly associated with the risk of hearing loss in East Asian and Southeast Asian popula- tions, but not significantly in European or Oceanian populations [11]. In our ...

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Whole exome sequencing reveals novel COL4A3 and COL4A4mutations and resolves diagnosis in Chinese families with kidney disease

Whole exome sequencing reveals novel COL4A3 and COL4A4mutations and resolves diagnosis in Chinese families with kidney disease

... related Chinese families with glomerulonephritis and no extra-renal involvement, in whom diagnosis had been difficult to make because of atypical clinical presenta- tion and complex or incomplete ...

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Routes to a Western Undergraduate Degree: Chinese Families’ Mobilization of Capital and Flexible Citizenship

Routes to a Western Undergraduate Degree: Chinese Families’ Mobilization of Capital and Flexible Citizenship

... Chinese families can physically move and settle down in various places, but they cannot do it without ...Some Chinese students have to study abroad because they do not have a local hukou ...advancing ...

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Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis

Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis

... Benign familial infantile epilepsy (BFIE), formerly called be- nign familial infantile seizures (OMIM 605751), is a benign familial focal epilepsy syndrome [1,2]. It is characterized by afebrile seizures with onset ...

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The Impact of Economic Capital, Social Capital and Cultural Capital: Chinese Families’ Access to Educational Resources

The Impact of Economic Capital, Social Capital and Cultural Capital: Chinese Families’ Access to Educational Resources

... education. Chinese families have always attached importance to the education of their children, a tradition that increases the influence of family background on ...education. Families with better ...

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The social context of ageing and intergenerational relationships in Chinese families

The social context of ageing and intergenerational relationships in Chinese families

... reform in the 1980s. The gap in life experience and expectations between generations can, as a result, be very wide. The younger generation in urban cities, unlike their parents whose education suffered during the ...

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Speaking against Silence: : Finding a Voice in Hong Kong Chinese Families through the Umbrella Movement

Speaking against Silence: : Finding a Voice in Hong Kong Chinese Families through the Umbrella Movement

... Participants who experienced such autocratic control at home expressed a wish to change the silencing ‘non-confrontational’ loyalty embedded in Hong Kong familial culture. Whereas Keung coped with family pressure through ...

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An anthropological study of ethnicity and the 
reproduction of culture among Hong Kong Chinese families in Scotland

An anthropological study of ethnicity and the reproduction of culture among Hong Kong Chinese families in Scotland

... which Chinese migrant parents can make concerning childcare in ...Scottish Chinese families is the apparent need for families to choose between two ways of being “good parents”: establishing ...

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Original Article A rare α-thalassemia deletion, -α 27.6 , is identified from three Chinese families in Fujian province

Original Article A rare α-thalassemia deletion, -α 27.6 , is identified from three Chinese families in Fujian province

... The current study was conducted between April 2015 and December 2015 at Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect (Fuzhou, China). The three probands were from three Chinese families in ...

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Original Article Compound heterozygous GNPTAB mutations cause mucolipidosis II or III alpha/beta in two Chinese families

Original Article Compound heterozygous GNPTAB mutations cause mucolipidosis II or III alpha/beta in two Chinese families

... In this study, we identified 4 mutations of GN- PTAB in two families with ML II/III. GNPTAB pre- cursor includes two transmembrane domains, two Stealth domains, Notch-repeat-like domai- ns, a γ-binding domain, a ...

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The influence of Filial Piety and Parents’ Involvement in Chinese families’ overseas education decision making

The influence of Filial Piety and Parents’ Involvement in Chinese families’ overseas education decision making

... moreover, Chinese parents seem to endow their child with the thirst for the life that they did not have, and expect the child to compensate this lost past – “I think it was because they didn’t have such chance ...

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Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa

Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa

... In family 2 (Fig. 2a-d), the nonsense mutation (c.2833G → T;p.E945X) happened in ORF15, and the obligatory female carriers manifested varying degrees of fundus phenotypes. A female carrier (III: 4) who was 52 years old ...

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Mutational analysis of AGXTin two Chinese families with primary hyperoxaluria type 1

Mutational analysis of AGXTin two Chinese families with primary hyperoxaluria type 1

... Genomic DNA was extracted from the members of both families and purified from peripheral leukocytes in whole- blood samples and cast-off cells in amniotic fluid using a DNA isolation kit. All AGXT exons were ...

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Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11

Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11

... ACMG: American College of Medical Genetics and Genomics; ARHSP: Autosomal recessive hereditary spastic paraplegia; ARJALS: Autosomal-recessive juvenile amyotrophic lateral sclerosis; EMG[r] ...

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MassMutual s State of the American Family Chinese Families

MassMutual s State of the American Family Chinese Families

... Currently, Chinese-Americans have only two or three times the amount of their salaries in life insurance, compared to five times or more for the general ...to families even when savings are depleted by ...

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A Study on the Underlying Causes Behind the Declining Trend of Chinese Male’s Authority in Families:  A Socio-functional Perspective —Taking a Chinese Dialect Episode: Go! The Whole Family as an Example

A Study on the Underlying Causes Behind the Declining Trend of Chinese Male’s Authority in Families: A Socio-functional Perspective —Taking a Chinese Dialect Episode: Go! The Whole Family as an Example

... traditional Chinese family, the father was in the center position, wives and offsprings were his ...traditional Chinese family, the father was in the center”(Xu, ...for Chinese middle-aged people, ...

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TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect

TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect

... This single-center prospective study, which involved four Chinese families with 14 clinically diagnosed TCS pa- tients, was performed at Peking Union Medical College Hospital (PUMCH) in Beijing, China. ...

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Decision Making and the Adoption Process for American Families of Chinese Children: An Application of Rational Choice Theory. Monica R.

Decision Making and the Adoption Process for American Families of Chinese Children: An Application of Rational Choice Theory. Monica R.

... to families in China that wish to do ...the Chinese families wanting to place their children for adoption, there are a number of policies related to the adoption of these children by families ...

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Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations

Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations

... Results: To determine the incidence of RET pathogenic variants, be they Mendelian inherited, mosaic in parents or true de novo variants (DNVs) in 117 Chinese families, we used high-coverage NGS and droplet ...

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