A Novel Mutation of the Gaa Gene in a Patient with Early-Onset Pompe Disease Lacking a Disease-Specific Pathology [0.03%]
GAA基因新突变的庞贝病早期发病患者缺乏疾病特异性病理改变
B Kilic,C Ayse Kartal
B Kilic
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(2):255-7. DOI: 2016
Transmembrane Activator and Caml Interactor (Taci) Haploinsufficiency in B-Cell Dysfunction in a Patient with Smith-Magenis Syndrome [0.03%]
唐氏综合症患者B细胞功能障碍与膜转运活化剂和CAML互作因子(TACI)基因剂量不足的关系研究
E Karaca,T Atik,A Alpman Durmaz et al.
E Karaca et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(2):251-4. DOI: 2016
O Güngör,S Kirik,S Işikay et al.
O Güngör et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(2):247-9. DOI: 2016
A Newborn with Down Syndrome, Developing Hydrops Fetalis Due to Transient Myeloproliferative Disorder and Liver Hamartoma [0.03%]
新生儿唐氏综合征并发短暂性髓系增生疾病和肝脏错构瘤致胎儿水肿症一例
M Saldir,A Polat,O Babacan et al.
M Saldir et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(2):243-6. DOI: 2016
H Koseoglu,E Demiralay,I Isiklar
H Koseoglu
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(2):239-42. DOI: 2016
Ultrasonographic and Cytogenetic Issues in Prenatal Diagnosis of Pallister Killian Syndrome [0.03%]
胎儿皮尔斯坦-killian综合征的超声和细胞遗传学问题
Z Cetin,C Sanhal,S B Karauzum et al.
Z Cetin et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(2):233-7. DOI: 2016
The clinical spectrum of a rare chromosomal abnormality: Isochromosome 18p [0.03%]
染色体异常18p等臂染色体的临床特点分析
B G Nur,O A Clark,Z Cetin et al.
B G Nur et al.
Isochromosome 18p is a rare chromosomal disorder that occurs with a frequency of approximately one in every 180,000 live births, and affects both genders equally. MOst cases result from a de novo formation. In the literature, there are curr...
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(2):223-31. DOI: 2016
G Gulec Ceylan,T Tos,E Sari
G Gulec Ceylan
Hanhart Syndrome (OMIM 103300) is an extremely rare syndrome with some congenital malformations. It is characterized by hypoglossia, adactylia/hypodactylia, peromelia of arms and/or legs and micrognathia. The severity of the symptoms can di...
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(2):219-22. DOI: 2016
Annular Pancreas, Severe Tracheomalacia and Bronchomalacia in a Preterm Boy with Vacterl Association [0.03%]
先天性环状胰腺并气管、支气管软化的胎儿血管成形术关联征1例报告
A Akdag,A Turgut,S Ceylan et al.
A Akdag et al.
VACTERL association includes vertebral anomalies, anal atresia, cardiac defects, tracheao-esophageal fistula, renal anomalies, and limb abnormalities. It is defined by the presence of at least three of these congenital malformations. The in...
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(2):207-10. DOI: 2016
Mitochondrial Neurogastrointestinal Encephalopathy: Clinical, Biochemical and Molecular Study in Three Egyptian Patients [0.03%]
线粒体胃肠脑病的临床、生化和分子研究——对三例埃及患者的分析
L Selim,R Van Coster,D Mehaney et al.
L Selim et al.
Background: Mitochondrial Neurogastrointestinal Encephalopathy syndrome is a rare autosomal recessive disorder. The disease is caused by mutations in the thymidine phosphorylase gene. This article reports the clinical, bi...
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(2):193-205. DOI: 2016