A Systematic Review of Cutaneous Hypopigmentation Disorder Associated with Neurologic Involvement. [PDF]
Children (Basel)Pavone P +9 more
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The Role of Metabolic Disorders in the Development of Waxy Flexibility in Patients with Catatonic Schizophrenia. [PDF]
Iran J PsychiatryAbdollahi R.
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Expanding carrier screening: beyond the genes, to include underrepresented ancestries. [PDF]
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The common homocystinuria-associated P1173L variant of human methionine synthase impairs reductive methylation. [PDF]
J Biol ChemGuha A, Banerjee R.
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Management of Spherophakia- or Microspherophakia-associated Mild to Moderate Glaucoma with Lensectomy, Anterior Vitrectomy, and Iris-Claw Intraocular Lens Implantation. [PDF]
J Ophthalmic Vis ResMeshksar A +3 more
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The Reclassification of a <i>FBN1</i> Variant of Unknown Significance Associated With Marfan Syndrome Through Careful Clinical Correlation and Family-Based Evaluation. [PDF]
Case Rep MedBouhamdani D +3 more
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A Silvery Hair Revolution: Case Report of Marie Antoinette Syndrome in a Child. [PDF]
Skin Appendage DisordGolubov-Mandujano M +4 more
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Retinal Changes in Early-Onset cblC Methylmalonic Acidemia Identified Through Expanded Newborn Screening: Highlights from a Case Study and Literature Review. [PDF]
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