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1 . Academic Journal
一例TRAPPC9复合杂合变异导致的智力发育迟缓患儿的诊断 / Diagnosis of a case with mental retardation due to novel compound heterozygous variants of TRAPPC9 gene
저자
by
白周现
;
孔祥东
;
Bai Zhouxian
;
Kong Xiangdong
.
소스
中华医学遗传学杂志 / Chinese Journal of Medical Genetics
. 36(11):1115-1119
Scopus
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6 . Academic Journal
一个导致德朗热综合征的NIPBL基因新突变鉴定及产前诊断 / Identification and prenatal diagnosis of a novel NIPBL mutation underlying Cornelia De Lange syndrome
저자
by
白周现
;
孔祥东
;
Bai Zhouxian
;
Kong Xiangdong
.
소스
中华医学遗传学杂志 / Chinese Journal of Medical Genetics
. 36(9):910-913
Scopus
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6 . Academic Journal
GRIA3基因突变导致的X连锁隐性遗传智力低下94型合并孤独症一例 / X-linked mental retardation combined with autism caused by a novel hemizygous mutation of GRIA3 gene
저자
by
白周现
;
孔祥东
;
Bai Zhouxian
;
Kong Xiangdong
.
소스
中华医学遗传学杂志 / Chinese Journal of Medical Genetics
. 36(8):829-833
Scopus
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6 . Academic Journal
低深度全基因组测序拷贝数变异检测技术对缺失型X连锁鱼鳞病的检测效力及意义的分析研究 / Application of low-depth whole-genome sequencing for copy number variations in genetic diagnosis of X-linked ichthyosis due to STS gene deletion
저자
by
白周现
;
陈晨
;
苏利沙
;
徐慧
;
王聪慧
, et al.
소스
中华皮肤科杂志 / Chinese Journal of Dermatology
. 52(10):736-742
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7 . Academic Journal
Karyomap基因芯片在面肩肱型肌营养不良症1型产前诊断的应用 / Application of Karyomapping for the prenatal diagnosis of five families affected with facioscapulohumerial muscular dystrophy type 1
저자
by
郑玉婷
;
孔令蓉
;
徐慧
;
白周现
;
卢永杰
, et al.
소스
中华医学遗传学杂志 / Chinese Journal of Medical Genetics
. 36(3):203-206
Scopus
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7 . Academic Journal
一个导致视网膜色素变性的RHO基因新突变的鉴定 / Identification of a novel RHO mutation in a pedigree affected with retinitis pigmentosa
저자
by
白周现
;
刘莉娜
;
胡爽
;
吴庆华
;
孔祥东
, et al.
소스
中华医学遗传学杂志 / Chinese Journal of Medical Genetics
. 36(3):234-237
Scopus
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7 . Academic Journal
连续两次发生胎儿1p31.1区拷贝数异常一家系 / Analysis of a family with recurrent fetal copy number variations in 1p31.1
저자
by
孔祥东
;
张田园
;
白周现
;
苏丽沙
;
王莉
, et al.
소스
中华医学遗传学杂志 / Chinese Journal of Medical Genetics
. 36(11):1127-1129
Scopus
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7 . Academic Journal
全基因组关联分析轻度认知障碍和阿尔兹海默病的遗传学差异 / Analysis of genetic difference between mild cognitive impairment and Alzheimer's disease through genome-wide association study
저자
by
白周现
;
孔祥东
;
Bai Zhouxian
;
Kong Xiangdong
.
소스
中华医学遗传学杂志 / Chinese Journal of Medical Genetics
. 35(3):342-346
Scopus
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6 . Academic Journal
一例肾-视神经乳头缺损综合征患儿基因突变检测分析 / Detection and analysis of gene mutation in a case of child's renal coloboma syndrome
저자
by
白周现
;
焦智慧
;
孔祥东
;
Bai Zhouxian
;
Jiao Zhihui
, et al.
소스
中华眼底病杂志 / Chinese Journal of Ocular Fundus Diseases
. 34(6):552-555
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7 . Academic Journal
NR2E3基因纯合新突变致Goldmann-Favre综合征一家系 / Novel homozygotic mutation in the NR2E3 gene in a family affected with Goldmann-Favre syndrome
저자
by
白周现
;
胡爽
;
孔祥东
;
Bai Zhouxian
;
Hu Shuang
, et al.
소스
中华眼底病杂志 / Chinese Journal of Ocular Fundus Diseases
. 34(6):541-545
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