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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--DiagnosisGenetic disorders--TreatmentMutagenicity testingRare diseases

2. A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor

Rossi, Malco; Cesarini, Martin; Gatto, Emilia; Cammarota, Angel; Merello, Marcelo
2018
Articles
TremorAtaxiaGenetic disorders--DiagnosisMovement disordersNeurosciences

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 diseaseMedical ethicsGenetic disorders--DiagnosisCognition 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--PatientsPancreatitisMedical geneticsGenetic disorders--DiagnosisMedical sciencesGenetics

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 genesCrossing over (Genetics)Stature, ShortGenetic disorders--DiagnosisGeneticsObstetricsGynecologyMedical 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 deficiencyGenetic disorders--DiagnosisGenetic counseling--Social aspectsPhysician and patientSelf-disclosure--Health aspects