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Toplam kayıt 5, listelenen: 1-5
The Association BetweenBMP-2,UQCC1andCX3CR1Polymorphisms and the Risk of Developmental Dysplasia of the Hip
(Springer Heidelberg, 2020)
Objective Developmental dysplasia of the hip (DDH) is a complicated skeletal disease ranging from subluxation to complete dislocation of the hip as a result of insufficient development of the acetabulum and femur. To date, ...
A Homozygous 1.16 Megabases Microdeletion at 8p22 Including The Whole TUSC3 in A Three Years Old Girl with Intellectual Disability and Speech Delay
(Royan Inst, 2020)
Intellectual disability (ID) is defined as an intelligence quotient (IQ) level below than 70. In the present paper, a 1.16 megabases (Mb) homozygous deletion in the 8p22 region was identified in a three years old girl with ...
A Homozygous 1.16 Megabases Microdeletion at 8p22 including the Whole TUSC3 in A Three Years Old Girl with Intellectual Disability and Speech Delay
(Royan Institute (ACECR), 2020)
Intellectual disability (ID) is defined as an intelligence quotient (IQ) level below than 70. In the present paper, a 1.16 megabases (Mb) homozygous deletion in the 8p22 region was identified in a three years old girl with ...
Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey
(Wiley, 2020)
Background Bardet-Biedl syndrome (BBS) is a very-rare autosomal recessive genetic disorder with severe multisystem manifestations. Genetic testing plays an important role in the early diagnosis of the disease. In this ...
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability
(BMJ Publishing Group, 2020)
Background: Intellectual disability syndromes (IDSs) with or without developmental delays affect up to 3% of the world population. We sought to clinically and genetically characterise a novel IDS segregating in five unrelated ...