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1. Mutation detection
: a practical approach
by Cotton, Richard G. H and Edkins, E. (Edward) and Forrest, S. (Sue)
1998, Practical approach series, ISBN 9780199636570, Volume 188, xx, 242
Chromosome abnormalities | Molecular genetics | Laboratory manuals | Mutation (Biology)
Book
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2. Full Text The bedside dysmorphologist
: classic clinical signs in human malformation syndromes and their diagnostic significance
by Reardon, William, 1960
2008, ISBN 9780195300451
Pediatrics | Abnormalities, Human | Abnormalities | Physical diagnosis | Infant | Diagnosis | Child
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3. Full Text Challenges in the diagnosis of fetal non‐chromosomal abnormalities at 11–13 weeks
by Syngelaki, Argyro and Chelemen, Teodora and Dagklis, Themistoklis and Allan, Lindsey and Nicolaides, Kypros H
Prenatal Diagnosis, ISSN 0197-3851, 01/2011, Volume 31, Issue 1, pp. 90 - 102
Objective To examine the performance of the 11–13 weeks scan in detecting non‐chromosomal abnormalities. Methods Prospective first‐trimester screening study... 
nuchal translucency | prenatal diagnosis | ultrasound | first‐trimester screening | fetal abnormalities | Nuchal translucency | First-trimester screening | Prenatal diagnosis | Fetal abnormalities | Ultrasound | UNSELECTED POPULATION | first-trimester screening | RANDOMIZED CONTROLLED-TRIAL | STRUCTURAL ABNORMALITIES | CARDIAC DEFECTS | OBSTETRICS & GYNECOLOGY | NUCHAL-TRANSLUCENCY THICKNESS | NORMAL KARYOTYPE | EARLY-PREGNANCY | CHROMOSOMALLY NORMAL FETUSES | ULTRASONOGRAPHIC DIAGNOSIS | GENETICS & HEREDITY | CONGENITAL HEART-DEFECTS | MEDLINE | Humans | Musculoskeletal Abnormalities - diagnostic imaging | Aneuploidy | Nervous System Malformations - diagnostic imaging | Congenital Abnormalities - diagnostic imaging | Gestational Age | Pregnancy | Heart Defects, Congenital - diagnostic imaging | Kidney - abnormalities | Ultrasonography, Prenatal | Nuchal Translucency Measurement | Limb Deformities, Congenital - diagnostic imaging | Female | Gastroschisis | Cerebellum | Heart | Hypoplasia | Fetuses | Lung | Gestation | Hand | Corpus callosum | Holoprosencephaly | Kidney | Clubfoot | Foot | Hernia | Spina bifida | Polydactyly | Skeleton
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4. Maternal-fetal toxicology
: a clinician's guide
by Koren, Gideon, 1947
2001, 3rd ed., rev. and expanded., Medical toxicology, ISBN 9780824703783, Volume 3, xviii, 831
Pregnancy | Abnormalities, Drug-Induced | Developmental toxicology | Effect of drugs on | Effect of chemicals on | Teratogens | Etiology | Abnormalities | Drug Therapy | Fetus | drug effects | Effect of radiation on
Book
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5. Handbook of mouse mutations with skin and hair abnormalities
: animal models and biomedical tools
by Sundberg, John P
1994, CRC series in dermatology, ISBN 0849383722, 544
Hair | Animal models | Handbooks, manuals, etc | abnormalities | Skin Diseases | Mice, Transgenic | Mice as laboratory animals | Diseases | Genetics | Mice | Skin | Mutation | Disease Models, Animal
Book
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6. Full Text Central pain in multiple sclerosis – Sensory abnormalities
by Österberg, A and Boivie, J and Neurologi and Linköpings universitet and Institutionen för klinisk och experimentell medicin and Hälsouniversitetet
European Journal of Pain, ISSN 1090-3801, 2009, Volume 14, Issue 1, pp. 104 - 110
Abstract Many patients with multiple sclerosis (MS) develop central neuropathic pain (CP). In the present study somatosensory abnormalities have been analysed... 
Anesthesia & Perioperative Care | Pain Medicine | Multiple sclerosis | Central neuropathic pain | Sensibility | Quantitative sensory test (QST) | MECHANISMS | PREVALENCE | THRESHOLDS | NEUROSCIENCES | CLINICAL NEUROLOGY | SAMPLE | ANESTHESIOLOGY | THERMOTEST | CORD INJURY PATIENTS | CENTRAL POSTSTROKE PAIN | Sensation - physiology | Humans | Middle Aged | Male | Thermosensing | Young Adult | Multiple Sclerosis - physiopathology | Hand - innervation | Foot - physiology | Pain - etiology | Adult | Female | Hand - physiology | Physical Stimulation | Cold Temperature | Vibration | Foot - innervation | Hot Temperature | Multiple Sclerosis - complications | Pain - psychology | Sensory Thresholds - physiology | Pain - physiopathology | Adolescent | Aged | Touch - physiology | Motion Perception | Differential Threshold - physiology | Medical and Health Sciences | Medicin och hälsovetenskap | MEDICIN | MEDICINE
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7. Full Text Cortical and spinal abnormalities in psychogenic dystonia
by Espay, Alberto J and Morgante, Francesca and Purzner, Jamie and Gunraj, Carolyn A and Lang, Anthony E and Chen, Robert
Annals of Neurology, ISSN 0364-5134, 05/2006, Volume 59, Issue 5, pp. 825 - 834
Objective The pathophysiology of psychogenic dystonia has not been examined, but a growing body of literature suggests that abnormal sensory input from... 
PRIMARY SOMATOSENSORY CORTEX | REPETITIVE STRAIN INJURY | HUMAN MOTOR CORTEX | WRITERS CRAMP | TRANSCRANIAL MAGNETIC STIMULATION | HUMAN FOREARM | FOCAL HAND DYSTONIA | NEUROSCIENCES | RECIPROCAL INHIBITION | NERVE BLOCK | CLINICAL NEUROLOGY | PARKINSONS-DISEASE | Reflex - physiology | Evoked Potentials, Motor - physiology | Humans | Middle Aged | Forearm - innervation | Evoked Potentials - physiology | Male | Electroencephalography | Cerebral Cortex - physiopathology | Transcranial Magnetic Stimulation | Posture - physiology | Age of Onset | Adult | Female | Aged | Electromyography | Functional Laterality - physiology | Spinal Cord - physiopathology | Forearm - physiology | Dystonic Disorders - physiopathology | Nerve Net - physiopathology
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8. Full Text Corticospinal Tract Diffusion Abnormalities Early After Stroke Predict Motor Outcome
by Groisser, Benjamin N and Copen, William A and Singhal, Aneesh B and Hirai, Kelsi K and Schaechter, Judith D
Neurorehabilitation and Neural Repair, ISSN 1545-9683, 10/2014, Volume 28, Issue 8, pp. 751 - 760
Background. Prognosis of long-term motor outcome of acute stroke patients with severe motor impairment is difficult to determine. Objective. Our primary goal... 
dexterity | strength | motor recovery | prediction | upper limb | corticospinal tract (CST) | diffusion tensor imaging (DTI) | prognosis | stroke | motor impairment | TENSOR IMAGING DETECTS | PYRAMIDAL TRACT | WALLERIAN DEGENERATION | RETINAL ISCHEMIA | ANISOTROPY | CLINICAL NEUROLOGY | RECOVERY | WHITE-MATTER TRACTOGRAPHY | TRANSCRANIAL MAGNETIC STIMULATION | REHABILITATION | ISCHEMIC-STROKE | CEREBRAL-ISCHEMIA | Movement | Prognosis | Humans | Middle Aged | Male | Diffusion Tensor Imaging | Stroke - pathology | Upper Extremity - physiopathology | Young Adult | Anisotropy | Adult | Female | Aged | Pyramidal Tracts - pathology | Hand Strength | Care and treatment | Research | Stroke patients | Neurological research | Motor ability
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9. The malformed infant and child
: an illustrated guide
by Goodman, Richard M. 1932- (Richard Merle) and Gorlin, Robert J., 1923-2006
1983, ISBN 9780195032550, ix, 460
Abnormalities, Human | Infants | Children | Diagnosis | Abnormalities | Diseases
Book
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10. Wills Eye Institute 5-minute ophthalmology consult
by Maguire, Joseph I and Murchison, Ann P and Jaeger, Edward A
2012, 5-minute consult series, ISBN 9781608316656
"The Wills Eye Institute 5-Minute Ophthalmology Consult provides a readily accessible and focused compendium of ophthalmic abnormalities that will be useful... 
Eye Diseases | Eye Abnormalities
Book
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11. Full Text The secreted β-amyloid precursor protein ectodomain APPsα is sufficient to rescue the anatomical, behavioral, and electrophysiological abnormalities of APP-deficient mice
by Ring, Sabine and Weyer, Sascha W and Kilian, Susanne B and Waldron, Elaine and Pietrzik, Claus U and Filippov, Mikhail A and Herms, Jochen and Buchholz, Christian and Eckman, Christopher B and Korte, Martin and Wolfer, David P and Müller, Ulrike C
Journal of Neuroscience, ISSN 0270-6474, 07/2007, Volume 27, Issue 29, pp. 7817 - 7826
It is well established that the proteolytic processing of the beta-amyloid precursor protein (APP) generates beta-amyloid (A beta), which plays a central role... 
LTP | β-amyloid precursor protein | Alzheimer's disease | APPsα | Knock-out | Physiological functions | RECEPTOR-RELATED PROTEIN | FORM | ALZHEIMERS-DISEASE | FAMILY-MEMBERS | APPs alpha | knock-out | NEUROSCIENCES | CEREBROSPINAL-FLUID LEVELS | LACKING | GENE | MEMORY | beta-amyloid precursor protein | physiological functions | GENERATION | LONG-TERM POTENTIATION | Amyloid beta-Protein Precursor - deficiency | Cell Line | Peptide Fragments - metabolism | Action Potentials - genetics | Sequence Deletion - physiology | Gene Expression Regulation - genetics | Spatial Behavior - physiology | Behavior, Animal - physiology | Mice, Transgenic | Long-Term Potentiation - genetics | Body Weight - genetics | Action Potentials - physiology | Brain - metabolism | Motor Activity - genetics | Amyloid Precursor Protein Secretases - metabolism | Animals | Analysis of Variance | Amyloid beta-Peptides - metabolism | Brain - pathology | Long-Term Potentiation - physiology | Mice | In Vitro Techniques | Hand Strength - physiology | Peptide Fragments - genetics
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12. Full Text Middle ear abnormalities in Van Maldergem syndrome
by Verheij, Emmy and Thomeer, Henricus G X M and Pameijer, Frank A and Topsakal, Vedat
American Journal of Medical Genetics. Part A, ISSN 1552-4825, 01/2017, Volume 173, Issue 1, pp. 239 - 244
Van Maldergem syndrome (VMS) is a very rare syndrome that was first described in 1992. The main features of this syndrome comprise intellectual disability,... 
conductive hearing loss | Van Maldergem syndrome | congenital microtia | middle ear malformation | Journal Article | bone anchored hearing device | OVAL WINDOW | SURGERY | DIAGNOSIS | CONGENITAL AURAL ATRESIA | SURGICAL-TREATMENT | GENETICS & HEREDITY | AUDIOMETRIC OUTCOMES | ABSENCE | DCHS1 | Ear, Middle - diagnostic imaging | Joint Instability - diagnosis | Audiometry | Humans | Foot Deformities, Congenital - diagnosis | Male | Tomography, X-Ray Computed | Hand Deformities, Congenital - diagnosis | Ear, Middle - abnormalities | Phenotype | Craniofacial Abnormalities - diagnosis | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Adolescent | Birth defects | Genetic disorders
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13. Full Text White matter abnormalities in gene-positive myoclonus-dystonia
by van der Meer, Johan N and Beukers, Richard J and van der Salm, S. M. A and Caan, Matthan W. A and Tijssen, Marina A. J and Nederveen, Aart J
Movement disorders, ISSN 0885-3185, 2012, Volume 27, Issue 13, pp. 1666 - 1672
Myoclonus-dystonia is an autosomal dominantly inherited movement disorder clinically characterized by myoclonic jerks and dystonic movements of the upper body.... 
VBM | DTI | structural imaging | myoclonus | dystonia | Dystonia | Myoclonus | Structural imaging | BASAL GANGLIA | FOCAL DYSTONIA | HAND DYSTONIA | CLINICAL NEUROLOGY | VOXEL-BASED MORPHOMETRY | PRIMARY CERVICAL DYSTONIA | EPSILON-SARCOGLYCAN | WRITERS CRAMP | IDIOPATHIC DYSTONIA | DIFFUSION | RATING-SCALE | Dystonic Disorders - genetics | Humans | Middle Aged | Male | Dystonic Disorders - complications | Diffusion Tensor Imaging | Young Adult | Anisotropy | Nerve Fibers, Myelinated - pathology | Adolescent | Leukoencephalopathies - etiology | Brain - pathology | Adult | Female | Aged | Imaging, Three-Dimensional | Medical colleges | Neurons | Movement disorders | Financial disclosure
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14. Full Text Feedforward and feedback motor control abnormalities implicate cerebellar dysfunctions in autism spectrum disorder
by Mosconi, Matthew W and Mohanty, Suman and Greene, Rachel K and Cook, Edwin H and Vaillancourt, David E and Sweeney, John A
Journal of Neuroscience, ISSN 0270-6474, 2015, Volume 35, Issue 5, pp. 2015 - 2025
Sensorimotor abnormalities are common in autism spectrum disorder (ASD) and among the earliest manifestations of the disorder. They have been studied far less... 
Cerebellum | Precision grip | Autism spectrum disorder | Sensorimotor | YOUNG-ADULTS | precision grip | ASPERGER-SYNDROME | INTERNAL-MODELS | PREMOTOR CORTEX | NEUROSCIENCES | cerebellum | PERVASIVE DEVELOPMENTAL DISORDERS | FORCE CONTROL | ISOMETRIC FORCE | VISUAL GUIDANCE | sensorimotor | autism spectrum disorder | PARKINSONS-DISEASE | Psychomotor Performance | Feedback, Physiological | Humans | Adolescent | Adult | Child Development Disorders, Pervasive - physiopathology | Female | Male | Cerebellum - physiopathology | Child | Case-Control Studies | Hand Strength
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