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  1. 141
    Genetic Variation of Hampala Fish (Hampala macrolepidota) Population in PB. Soedirman Reservoir and Serayu River
    “... of this fish. The results of this study are expected to be utilized to evaluate the potential genetic condition...”
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    Article
  2. 142
    POLIMORFISME GEN GROWTH HORMONE (GH) PADA SAPI LIMURA (GROWTH HORMONE (GH) GENE POLYMORPHISM OF LIMURA CATTLE)
    “... genetic condition. (Key words: Growth Hormone Gene, Limura Cattle, Polymorphism)...”
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    Article
  3. 143
    Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome
    by Chong Kun Cheon
    Published 2016-09-01
    “... that inactivate imprinted, paternally expressed genes in human chromosome region 15q11-q13. This genetic condition...”
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    Article
  4. 144
    Friendship in children with Neurofibromatosis Type 1 : an exploratory study of deficit and possible underlying causes
    by Rowbotham, Iris
    Published 2012
    “...Neurofibromatosis type 1 (NO) is a genetic condition with a penetrance of approximately 1 in 4000...”
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  5. 145
    Prenatal Diagnosis of Triploidy. Case Report and Literature Review
    “... of this genetic condition among live fetuses in the second trimester of pregnancy....”
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    Article
  6. 146
    Patient and Parent Experiences of Dual Genetic Diagnoses: Neurofibromatosis Type 1 and an Additional Genetic Disease
    by Grandine, Hayley
    Published 2016
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  7. 147
    Monogenic diabetes – an unappreciated problem among physicians
    “... genetic condition, therefore, it was frequently unappreciated among clinicians. Consequently, monogenic...”
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    Article
  8. 148
    Living with albinism in an African community: exploring the challenges of persons with albinism in Lilongwe District, Malawi
    “...Background: Albinism is a genetic condition caused by a deficit in the production of the pigment...”
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    Article
  9. 149
    Ineffective Erythropoiesis in β-Thalassaemia: Key Steps and Therapeutic Options by Drugs
    “...β-thalassaemia is a rare genetic condition caused by mutations in the β-globin gene that result...”
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    Article
  10. 150
    First report of complete albinism in Mazama americana (Erxleben, 1777) in the Biological Reserve of Tapirapé, Oriental Amazon, Brazil
    “...Albinism is a genetic condition that results in total hypopigmentation of the eyes, fur, skin, hair...”
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    Article
  11. 151
    Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review
    “... genetic condition with high penetrance and variable expressivity, with an estimated prevalence of 1...”
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    Article
  12. 152
    Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association
    “...Kleefstra syndrome is a genetic condition characterized by intellectual disability, childhood...”
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    Article
  13. 153
    The role of short-term memory and visuo-spatial skills in numerical magnitude processing: Evidence from Turner syndrome.
    “... processes. This study examines this issue in patients with Turner syndrome (TS), a genetic condition...”
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    Article
  14. 154
    SUMOylation of the Forkhead transcription factor FOXL2 promotes its stabilization/activation through transient recruitment to PML bodies.
    “.... It is mutated in the genetic condition called Blepharophimosis Ptosis Epicantus inversus Syndrome (BPES...”
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    Article
  15. 155
    Recent Advances and Challenges of mTOR Inhibitors Use in the Treatment of Patients with Tuberous Sclerosis Complex
    by Filipe Palavra, Conceição Robalo, Flávio Reis
    Published 2017-01-01
    “...Tuberous sclerosis complex (TSC) is a genetic condition characterized by the presence of benign...”
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    Article
  16. 156
    The level of microRNA 21 is upregulated by rapamycin in serum of tuberous sclerosis complex patients and subependymal giant cell astrocytoma (SEGA)-derived cell cultures
    “...Tuberous sclerosis complex (TSC) represents a genetic condition, in which the clinical...”
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    Article
  17. 157
    Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report
    “...CONTEXT: The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic...”
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    Article
  18. 158
    Mitochondrial Cardiomyopathy Presenting as Dilated Phase of Hypertrophic Cardiomyopathy Diagnosed with Histological and Genetic Analyses
    “... of mitochondrial cardiomyopathy is helpful because it is a genetic condition and also for consideration of device...”
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    Article
  19. 159
    Pituitary-Adrenal Axis in Prader Willi Syndrome
    “...Purpose: Prader Willi syndrome (PWS) is a rare genetic condition that has concurrent...”
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    Article
  20. 160
    Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice
    “... and point mutations of RAI1 are associated with Smith-Magenis syndrome (SMS), a genetic condition...”
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    Article
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