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Four cases of myotonia congenita in a Turkish family
Myotonia Thomsens disease autosomal dominant inheritance
2010/2/24
Myotonia congenita is a rare muscular disorder with autosomal dominant or autosomal recessive inheritance, and is characterized by painless myotonia. A 44-year-old mother presented at our clinic with ...
A REPORT OF 4 CASES OF CHROMOSOME ABNORMALITIES IN 115 FAMILIES WITH CONSANGUINEOUS MARRIAGE
Chromosome study Genetic counseling
2009/12/30
115 couples with consanguineous marriage, who had experienced reported abortions or still births either in their close relatives (3 couples) or themselves (1 couple) were exposed to genetic counseling...
Chronic Mucocutaneous Candidiasis; Report of Three Cases with Different Phenotypes
Candidia Chronic Mucocutaneous Candidiasis Immunologic Deficiency Syndromes
2010/2/3
Despite the fact that higher BMI is a risk factor for, wheeze ever, wheeze and dyspnea in the last 12 months, and diagnosed asthma, higher BMI is not a risk factor for obstructive pattern in pulmonary...