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Author
Anyane-Yeboa, Kwame
2
Arnér, Elias S. J.
1
Cammarota, Angel
1
Censani, Marisa
1
Cesarini, Martin
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Center for Parkinson's Disease and Other Movement Disorders
2
Pediatrics
2
Obstetrics and Gynecology
1
Pathology and Cell Biology
1
Psychiatry
1
Subject
Genetic disorders--Diagnosis
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6
Genetics
2
Medical sciences
2
Alpha 1-antitrypsin deficiency
1
Ataxia
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Articles
6
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–
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2009
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2021
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Journal
Tremor and Other Hyperkinetic Movements
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Language
English
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Genetic disorders--Diagnosis
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1.
Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities
Cheff, Dorian M.; Muotri, Alysson R.; Stockwell, Brent R.; Schmidt, Edward E.; Ran, Qitao; Kartha, Reena V.; Johnson, Simon C.; Mittal, Plavi; Arnér, Elias S. J.; Wigby, Kristen M.; Hall, Matthew D.; Ramesh, Sanath K.
2021
Articles
Genetic disorders--Diagnosis
Genetic disorders--Treatment
Mutagenicity testing
Rare diseases
2.
A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor
Rossi, Malco; Cesarini, Martin; Gatto, Emilia; Cammarota, Angel; Merello, Marcelo
2018
Articles
Tremor
Ataxia
Genetic disorders--Diagnosis
Movement disorders
Neurosciences
3.
Huntington Disease: The Complexities of Making and Disclosing a Clinical Diagnosis After Premanifest Genetic Testing
McCusker, Elizabeth; Loy, Clement T.
2017
Articles
Huntington's disease
Medical ethics
Genetic disorders--Diagnosis
Cognition disorders
4.
Bohring–Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome
Dangiolo, Silvana Beatriz; Wilson, Ashley L.; Jobanputra, Vaidehi; Anyane-Yeboa, Kwame
2015
Articles
Cystic fibrosis--Patients
Pancreatitis
Medical genetics
Genetic disorders--Diagnosis
Medical sciences
Genetics
5.
Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report
Censani, Marisa; Anyane-Yeboa, Kwame; Wapner, Ronald J.; Spiegel, Erica; Guzman, Edwin; Oberfield, Sharon E.
2013
Articles
Homeobox genes
Crossing over (Genetics)
Stature, Short
Genetic disorders--Diagnosis
Genetics
Obstetrics
Gynecology
Medical sciences
6.
The Impact of Social Contexts in Testing for Alpha-1 Antitrypsin Deficiency: The Roles of Physicians and Others
Klitzman, Robert L.
2009
Articles
Alpha 1-antitrypsin deficiency
Genetic disorders--Diagnosis
Genetic counseling--Social aspects
Physician and patient
Self-disclosure--Health aspects