2 citations
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October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
1 citations
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April 2025 in “American Journal of Medical Genetics Part C Seminars in Medical Genetics” Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
January 2024 in “JCEM case reports” This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
December 2020 in “Nigerian journal of animal production” Dexamethasone can cause diabetes in rats, and Annona muricata bark extract may help lower blood sugar.
4 citations
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July 2012 in “Linguistic Annotation Workshop” Root hairs in barley improve growth and zinc uptake in zinc-deficient soil.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
November 2024 in “Journal of Investigative Dermatology” ATP-sensitive potassium channels are important for hair growth.
61 citations
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January 2013 in “International Journal of Biological Macromolecules” Combining DHT and EDC improves the strength and stability of PADM scaffolds for tissue engineering.
1 citations
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July 2025 in “Frontiers in Endocrinology” ApoBDs, once seen as waste, are now viewed as potential tools for disease treatment and tissue repair.
December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
July 2025 in “Ultrasound in Medicine & Biology” UTMD with diclofenac and Doxil® improves cancer treatment by boosting immune response and reducing tumor-supporting cells.
1 citations
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April 2013 in “Journal of Investigative Dermatology”
April 2023 in “Tikrit Journal of Pharmaceutical Sciences” Deferasirox effectively reduces iron overload in ß-thalassemia patients but may cause some manageable side effects.
18 citations
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September 2024 in “Journal of the European Academy of Dermatology and Venereology” The DLQI is a key tool for measuring quality of life in dermatology.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
1 citations
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January 2023 in “The FASEB Journal” CircAGK affects cell death in hair cells by controlling the miR-3180-5p/BAX pathway, which can lead to hair loss.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
1 citations
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October 2022 in “Molecular therapy” The FDA approved the first gene therapy for a blood disorder after overcoming early challenges and demonstrating patient benefits.
12 citations
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February 2013 in “The Open Stem Cell Journal” DPSCs and SHED have great potential for medical treatments and tissue repair.
8 citations
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December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
6 citations
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January 2020 in “Open Journal of Psychiatry” The Greek DCQ is a reliable and valid tool for assessing dysmorphic concern.
2 citations
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July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.
5 citations
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August 2021 in “Frontiers in Cell and Developmental Biology” DHEA boosts bone cell growth and differentiation in elderly stem cells.
July 2025 in “Journal of Investigative Dermatology” 12 citations
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September 2015 in “Drug Design Development and Therapy” AD198 is more effective than doxorubicin in stopping certain dog cancer cells.
September 2025 in “Pakistan Journal of Science” Diabetics have lower essential element levels, which may contribute to diabetes, and certain plants might help manage it.
February 2022 in “Mediators of Inflammation” Women with Polycystic Ovary Syndrome (PCOS) have lower levels of a substance called DIAPH1 in their blood, which is linked to changes in sugar metabolism and insulin resistance.
4 citations
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October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.