Pages that link to "Q36403895"

The following pages link to Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2. (Q36403895):

Displaying 40 items.

• A structured approach to the assessment of a floppy neonate (Q26748477) (← links)
• Molecular genetics and genetic testing in myotonic dystrophy type 1. (Q27691417) (← links)
• Analysis of CTG repeat length variation in the DMPK gene in the general population and the molecular diagnosis of myotonic dystrophy type 1 in Malaysia (Q33552599) (← links)
• PCR amplification of a triple-repeat genetic target directly from whole blood in 15 minutes as a proof-of-principle PCR study for direct sample analysis for a clinically relevant target (Q35510241) (← links)
• Cortical and Subcortical Grey and White Matter Atrophy in Myotonic Dystrophies Type 1 and 2 Is Associated with Cognitive Impairment, Depression and Daytime Sleepiness (Q35675290) (← links)
• Clinical, pathological and genetic characteristics of a pedigree with myotonic dystrophy type 1. (Q36335776) (← links)
• Multidimensional aspects of pain in myotonic dystrophies (Q36876599) (← links)
• Identification and characterization of DM1 patients by a new diagnostic certified assay: neuromuscular and cardiac assessments (Q36879671) (← links)
• Assessment of Premutation in Myotonic Dystrophy Type 1 Affected Family Members by TP-PCR and Genetic Counseling (Q37674085) (← links)
• How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? (Q38060527) (← links)
• Impaired pre-mRNA processing and altered architecture of 3' untranslated regions contribute to the development of human disorders (Q38125066) (← links)
• Recent advances in myotonic dystrophy type 2. (Q38179289) (← links)
• Abnormal Lactate Levels Affect Motor Performance in Myotonic Dystrophy Type 1. (Q38347349) (← links)
• Clinical characteristics of pregnancies complicated by congenital myotonic dystrophy. (Q38632916) (← links)
• Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1. (Q38851475) (← links)
• Myotonic Dystrophy Type 1 Management and Therapeutics (Q39003493) (← links)
• Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis. (Q39043041) (← links)
• Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects (Q39081415) (← links)
• Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism (Q39329814) (← links)
• Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach. (Q39333700) (← links)
• Simple Repeat-Primed PCR Analysis of the Myotonic Dystrophy Type 1 Gene in a Clinical Diagnostics Environment. (Q40597089) (← links)
• Variability of multisystemic features in myotonic dystrophy type 1--lessons from Serbian registry (Q40726509) (← links)
• Personality traits in patients with myotonic dystrophy type 2. (Q41078229) (← links)
• Dystrophia myotonica type 1 presenting with dysarthria: A case report and literature review (Q41113375) (← links)
• Application of a reliable and rapid polymerase chain reaction based method in the diagnosis of myotonic dystrophy type 1 (DM1) in India. (Q41858676) (← links)
• Improved PCR based methods for detecting C9orf72 hexanucleotide repeat expansions. (Q41951834) (← links)
• Cardiac involvement in myotonic dystrophy: a nationwide cohort study. (Q43412806) (← links)
• Repeat expansion diseases (Q47556768) (← links)
• Evaluation of CNS involvement in myotonic dystrophy type 1 and type 2 by transcranial sonography (Q48178005) (← links)
• Frontostriatal dysexecutive syndrome: a core cognitive feature of myotonic dystrophy type 2. (Q48474798) (← links)
• Shorter CTG repeats length in an oligodendroglioma from a myotonic dystrophy type 1 patient (Q48619377) (← links)
• Defining the performance parameters of a rapid screening tool for myotonic dystrophy type 1 based on triplet-primed PCR and melt curve analysis. (Q51465328) (← links)
• Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test. (Q64901253) (← links)
• Molecular Diagnosis of Myotonic Dystrophy (Q88530017) (← links)
• Magnetic resonance imaging of leg muscles in patients with myotonic dystrophies (Q88634322) (← links)
• De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1 (Q89393734) (← links)
• Clinical Care Recommendations for Cardiologists Treating Adults With Myotonic Dystrophy (Q89751423) (← links)
• Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations (Q90589930) (← links)
• Characterization of Iron Accumulation in Deep Gray Matter in Myotonic Dystrophy Type 1 and 2 Using Quantitative Susceptibility Mapping and R2* Relaxometry: A Magnetic Resonance Imaging Study at 3 Tesla (Q92537442) (← links)
• The evolving role of genetic tests in reproductive medicine (Q92621572) (← links)