Subject: Genetic disorders--Diagnosis | Search Results | Academic Commons

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1. 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

2. 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

3. 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

4. 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

5. 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