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Publications by Josh Willoughby

Cerebrofaciothoracic Dysplasia: Four New Patients With a Recurrent TMCO1 Pathogenic Variant

American Journal of Medical Genetics, Part A

English

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New Onset Hypertension-Rare Intimal Variant Fibromuscular Dysplasia

Journal of Cardiology Cases

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Role of MDH2 Pathogenic Variant in Pheochromocytoma and Paraganglioma Patients

Genetics in Medicine

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A Novel Pathogenic Variant (C.592_599del) in PCDH19 in a Korean Family With Epilepsy

Annals of Child Neurology

English

Microspherophakia-Metaphyseal Dysplasia: A 'New' Dominantly Inherited Bone Dysplasia With Severe Eye Involvement.

Journal of Medical Genetics

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GNA11 Brain Somatic Pathogenic Variant in an Individual With Phacomatosis Pigmentovascularis

Neurology: Genetics

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OP13.11: Placental Mesenchymal Dysplasia: Four Cases

Ultrasound in Obstetrics and Gynecology

Nuclear Medicine

Ultrasound Technology

Reproductive Medicine

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A Novel Pathogenic UGT1A1 Variant in a Sudanese Child With Type I Crigler-Najjar Syndrome

Drug Metabolism and Disposition

Pharmaceutical Science

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Molecular Basis of Dimethylglycine Dehydrogenase Deficiency Associated With Pathogenic Variant H109R

Journal of Inherited Metabolic Disease

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Recurrent Takotsubo Cardiomyopathy With Variant Forms of Left Ventricular Dysfunction

Journal of Cardiology Cases

Cardiovascular Medicine

English