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46,XY,t(4;6)(p16;p12)一例
46,XY/47,XY,+14一例
46,XY,inv(15)(q15;q22)一家系二例
46,XY真两性畸形1例
46,XY女性性反转一家系报告
46,XY/45,XY-G_2嵌合体综合征2例报告
46,X,t(X;1)染色体平衡易位病因探讨及遗传咨询
46,XX/47,XXX嵌合型合并平衡易位一例
46,XY,t(1q;5q)伴流产一例
46,XY,r(21)伴无精症的细胞遗传学分析
46,XY,t(7;12)一例
46,XX,t(7;14)伴流产一例
46,XY,inv(10)(qter→q11::pter→q11)臂间倒位一家系二例
46,XX男性表型及遗传学研究进展
46,XY,t(10;17)不平衡易位及其家系的遗传学分析
46,XY,add(3)(p26)伴发育迟缓智力低下一例
46,XY disorders of sex development and congenital diaphragmatic hernia: A case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly
46,XX DSD: the masculinised female
46,XX Male - Testicular Disorder of Sexual Differentiation (DSD): hormonal, molecular and cytogenetic studies
46,XX/SRY-negative true hermaphrodite
46,XY DSD due to impaired androgen production
46,XY and 45,X/46,XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis
46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy
46,XY单纯性腺发育不全合并性腺肿瘤5例分析
46,XY 17α-羟化酶缺乏30例手术治疗分析
46,XX/46,XY/45,X0嵌合体一例
46,XX男性性反转综合征4例报道
46,XX男性性反转综合征1例的基因检测
46,XX女性假两性畸形1例报告
46,XY disorders of sex development - the undermasculinised male with disorders of androgen action
46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literature
46,X,del(X)(q13) Turner's syndrome women with systemic lupus erythematosus in a pedigree multiplex for SLE
46,XY disorders of sex development (DSD)
46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1
46,XX SRY-POSITIVE MALE SYNDROME PRESENTING WITH PRIMARY HYPOGONADISM IN THE SETTING OF SCLERODERMA
46,XY pure gonadal dysgenesis: Clinical presentations and management of the tumor risk
46,XY disorder of sex development (DSD) due to 17 beta-hydroxysteroid dehydrogenase type 3 deficiency
46,XY女性性反转患者细胞遗传学检测
46,X,t(Y;4)(q11;p16)伴原发无精子症一例临床分析
46,X,i(Xq)型Turner综合征一例报告
46,XY,der(5),inv(5),t(5;7)染色体易位一例报告
46,XX males: a case series based on clinical and genetics evaluation
46,XX男性综合征1例报告
46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing
46,XX,der(9)t4;9)(q31.1;p24) as a novel genetic marker for spontaneous resolution of foetal pleural effusion
46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin
46,XY,-9,+der(9),t(7;9)染色体异常病例报道
46,X,t(X;22)伴生育两胎死婴一例