I Ertugrul,V Dogan,S Beken et al.
I Ertugrul et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(2):273-6. DOI: 2015
R Arisoy,O Demirci,E Erdogdu et al.
R Arisoy et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(2):271-2. DOI: 2015
TURNER SYNDROME WITH 45,X/46,X,I(Xq)/47,X,I(Xq),I(Xq) KARYOTYPE [0.03%]
特纳综合征的染色体核型为45,X/46,X，i(Xq)/47,X,i(Xq)，i(Xq)
O Gorukmez,S Ozemri Sag,T Gulten et al.
O Gorukmez et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(2):267-9. DOI: 2015
A TRISOMY 13 CASE PRESENTING WITH CONGENITAL DIAPHRAGMATIC HERNIA AND MICROPHTHALMIA [0.03%]
伴先天性膈疝和小眼症的13三体综合征一例报告
S Sahin,Kanmaz H G Kutman,O Bozkurt et al.
S Sahin et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(2):263-5. DOI: 2015
NOVEL MUTATION OF THE ELECTRON TRANSFERRING FLAVOPROTEIN DEHYDROGENASE (ETFDH) GENE IN THE ISOLATED MYOPATHIC FORM OF COENZYME q10 DEFICIENCY [0.03%]
异极素缺陷型肌病一例新的电子转移黄素蛋白脱氢酶基因突变
O Gorukmez,O Gorukmez,S Ozemri Sag et al.
O Gorukmez et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(2):259-62. DOI: 2015
CO-OCCURRENCE OF NEURAL TUBE DEFECT, THORACAL DEFECT AND OMPHALOCELE: A RARE CASE AND REVIEW OF THE LITERATURE [0.03%]
神经管缺陷、胸壁缺陷和脐膨出的共病：一例罕见病例及文献复习
By H Aydin,R Arisoy,H Simsek et al.
By H Aydin et al.
THE SPECTRUM OF CLINICAL FEATURES ASSOCIATED WITH KLIPPEL-TRENAUNAY-WEBER SYNDROME [0.03%]
克罗恩病的临床特点及相关综合征
O N Atan Sahin,T Atik,O Coğulu et al.
O N Atan Sahin et al.
PRENATAL DIAGNOSIS OF DE NOVO PERICENTRIC INVERSION INV(2)(p11.2z13) [0.03%]
胎儿新生的inv（2）（p11.2z13）环带内倒位的产前诊断
S Yakut,Z Cetin,C Sanhal et al.
S Yakut et al.
We here report a prenatal case with de novo pericentric inversion inv(2)(p11.2q13). A 20-years-old G1PO woman was referred for amniocentesis at 17 weeks of gestation, because of a positive second trimester screening test for aneuploidy. A d...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(2):243-7. DOI: 2015
A VARIANT CASE OF 6p24 DELETION SYNDROME (OMIM #612582) [0.03%]
6号染色体短臂端p24区域缺失综合征(OMIM ＃612582)变异病例报告
R N Ergin,E Cigerciogullari,Y Alanay et al.
R N Ergin et al.
The 6p24 deletion syndrome, a contiguous gene deletion syndrome is characterized by a wide spectrum of clinical presentations. In this case report we present an antenatal case of 6p 24 deletion syndrome variant involving FOXC1 gene. First t...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(2):237-41. DOI: 2015
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS WITH HOMOZYGOUS MUTATION (C.448DELC, P.LEU150 SER FSX11) ON EXON 6 OF MLC1 GENE [0.03%]
MLC病(EXON6 MLC1基因的纯合子突变(C.448DELC，P.LEU150 SER FSX11))伴有皮质下囊肿的巨脑性白质营养不良
Z Soysal,M Okur,R Eroz et al.
Z Soysal et al.
MLC or Van der Knaap disease is a rare entity, a rare and genetically heterogeneous cerebral white matter disease. It is characterized by the presence of macrocephaly, epilepsy and a slowly progressive spastic cerebellar syndrome. It is an ...
Case Reports
Genetic counseling (Geneva, Switzerland). 2015;26(2):233-6. DOI: 2015