Results 291 to 300 of about 34,487 (345)

Basal Metabolic Requirements, Biomarkers of Cardiometabolic Health, and Anthropometric Measures of Obesity in Women and Men With Restricted Growth Conditions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Population‐specific thresholds have not been defined for the levels of adiposity and systemic biomarkers that predict chronic health risks in people with restricted growth conditions. Here, anthropometric measures of adiposity, basal metabolic requirements, and fasted blood samples were obtained from adults with restricted growth (age 41 ± 14 ...
Lucy H. Merrell, Harry A. Smith, Harriet A. Carroll, Yung‐Chih Chen, Dylan Thompson, Javier T. Gonzalez, Greg Atkinson, James A. Betts   +7 more
wiley   +1 more source

De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Liprin‐α2, encoded by PPFIA2, belongs to the family of Liprin‐α proteins which constitute major synaptic scaffolds participating in the assembly and maturation of synapses. Heterozygous de novo variants in PPFIA2 were identified by exome or genome sequencing in two unrelated individuals with a neurodevelopmental disorder.
Theresa Brunet, Michael Zech, Ulrich A. Schatz, Miriam Adamovičová, Matias Wagner, Elisabeth Graf, Riccardo Berutti, Heike Weigand, Robert Jech, Thomas Meitinger, Juliane Winkelmann, Melanie Brugger   +11 more
wiley   +1 more source

TBX3‐ Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley   +1 more source

Developing transcranial direct current stimulation as a treatment for phantom limb pain: from pilot mechanistic studies to large clinical studies. [PDF]

Princ Pract Clin Res
Zhang XC, Pacheco-Barrios K, Fregni F.
europepmc   +1 more source

The Head Circumference Height Index (HCH‐I) to Quantify Relative Macrocephaly and Aid Identification of Hypochondroplasia in Children

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypochondroplasia (HCH) is a rare skeletal dysplasia caused by pathogenic variants in the FGFR3 gene. We hypothesized that the relative disproportion between head circumference and height in HCH might be diagnostically informative and generated a simple index of head‐stature disproportion to help pediatricians diagnose HCH.
Moira S. Cheung, Ruggero Lanzafame, Karen J. Low, Tim J. Cole   +3 more
wiley   +1 more source

Physiotherapy: A potential and novel treatment approach for phantom limb pain in post-amputee patients - A systematic review. [PDF]

Br J Pain
Gautam S, Srivastav AK, Sharma D.
europepmc   +1 more source

Phantom limb movements : kinesthetic perceptions and functional neuroanatomy in fMRI

, 2011
Estelle Raffin
openalex   +1 more source

Graded motor imagery and its phases for individuals with phantom limb pain following amputation: A scoping review. [PDF]

Clin Rehabil
Falbo KJ, Phelan H, Hackman D, Vogsland R, Rich TL.   +4 more
europepmc   +1 more source

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On Phantom Limbs

Archives of Neurology And Psychiatry, 1956
The presentation to follow does not claim to be a finished piece of work, or a survey of all the facts, or a theory which will settle the problem of phantom limbs once and for all. Rather, it is the result of a long-standing interest, occasional but fairly systematic examination of patients, with infrequent glimpses into the literature.
openaire   +3 more sources