Results 31 to 40 of about 79,532 (296)
Genetic testing for non syndromic retinitis pigmentosa
The EuroBiotech Journal, 2017 We reviewed the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for non syndromic retinitis pigmentosa (NSRP).
Abeshi Andi +5 more
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Hyperdontia: Exploring the Developmental Abnormality
Journal of Pre-Clinical and Clinical Research, 2020 Introduction and objective Hyperdontia is a dental developmental anomaly in which supernumerary teeth exist. These are extra teeth to the normal set of primary or permanent dentitions.
Naji Ziad Arandi
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Mendelian non-syndromic obesity.
Acta bio-medica : Atenei Parmensis, 2019 Obesity is highly heritable and arises from the interplay of many genes and environmental factors. It can be defined as the result of prolonged imbalance between calorie intake and energy utilization. About 5% of cases of non-syndromic obesity are monogenic (Mendelian obesity).
Paolacci, Stefano +10 more
openaire +2 more sources
Novel LRP6 Mutations Causing Non-Syndromic Oligodontia [PDF]
, 2022 The process of tooth formation is a series of reciprocal interactions between the ectoderm and mesoderm, and it is believed that many genetic factors are involved in this complex process.
Chae, Wonseon +7 more
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Genetics and Molecular Biology, 2006 Deafness is a complex disorder affecting 1/1000 infants. In developed countries, more than 50% of deafness cases are thought to have a genetic cause. At least 40 loci for dominant non-syndromic deafness and another 30 for recessive non-syndromic deafness
Raquel Rabionet +4 more
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Heliyon, 2019 Non syndromic orofacial clefts specifically non-syndromic cleft lip/palate are one of the most common craniofacial malformation among birth defects in human having multifactorial etiology with an incidence of 1:700/1000.
Komal Saleem +3 more
doaj +1 more source
Multidisciplinary treatment of non-syndromic oligodontia [PDF]
European Journal of Dentistry, 2012 ABSTRACTOligodontia is the agenesis of 6 or more teeth, excluding third molars. The etiology of congenital absence of teeth is believed to be rooted in heredity or developmental anomalies. The absence of teeth in patients can cause aesthetic, functional, and psychological problems, particularly if the anterior region is involved.
Canan, Bural +3 more
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A non-syndromic case of maxillo-mandibular keratocysts
Journal of Oral Medicine and Oral Surgery, 2020 Introduction: Odontogenic keratocysts (OKCs) are frequent, aggressive lesions with a strong tendency to recur, particularly in their para-keratinized majority form.
Brechard P.M. +4 more
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Non-Syndromic 46,XY Disorders of Sex Development [PDF]
, 2018 Non-syndromic 46,XY DSD (disorders of sex development) represent a phenotypically diversiform group of disorders. We focus on the association between gene variants and the most frequent types of non-syndromic 46,XY DSD, options of molecular genetic ...
Banovcin P, Gecz J, Breza J
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Frontiers in Genetics, 2022 Aortic dissection (AD) is a cardiovascular disease characterized by high mortality and poor prognosis. Although FBN1 is associated with syndromic AD, its association with non-syndromic AD remains unclear.
Meichen Pan +9 more
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