Per ulteriori informazioni selezionare i riferimenti di interesse.
Theoretical perspectives on language and communication problems in mental retardation and developmental disabilities
MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
Folding defects in fibrillar collagens
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY OF LONDON SERIES B-BIOLOGICAL SCIENCES
The rusty genotypes
M S-MEDECINE SCIENCES
A randomized controlled trial to assess the psychological impact of a family history screening questionnaire in general practice
FAMILY PRACTICE
Molecular genetics of Rett syndrome
NEUROCHEMISTRY INTERNATIONAL
Consanguinity and congenital heart disease in Saudi Arabia
AMERICAN JOURNAL OF MEDICAL GENETICS
The ethics of preadoption genetic testing
AMERICAN JOURNAL OF MEDICAL GENETICS
Parental consanguinity in specific types of congenital anomalies
AMERICAN JOURNAL OF MEDICAL GENETICS
The role of chaperone-assisted folding and quality control in inborn errors of metabolism: Protein folding disorders
JOURNAL OF INHERITED METABOLIC DISEASE
Aneuploidy in spermatozoa of infertile men with teratozoospermia
INTERNATIONAL JOURNAL OF ANDROLOGY
The molecular pathogenesis of ACTH insensitivity syndromes
ANNALES D ENDOCRINOLOGIE
Genetic screening of newborns
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
Hepatic peroxisomes in isolated hyperpipecolic acidaemia: evidence supporting its classification as a single peroxisomal enzyme deficiency
VIRCHOWS ARCHIV-AN INTERNATIONAL JOURNAL OF PATHOLOGY
Single founder mutation (W380G) in type II protein C deficiency in Finland
THROMBOSIS AND HAEMOSTASIS
Clinical findings in congenital absence of the vasa deferentia
ANDROLOGIA
Effects of sulfur mustard on the basal cell adhesion complex
JOURNAL OF APPLIED TOXICOLOGY
Effects of sulfur mustard on the basal cell adhesion complex
JOURNAL OF APPLIED TOXICOLOGY
Modification of alternative splicing pathways as a potential approach to chemotherapy
PHARMACOLOGY & THERAPEUTICS
Imprinted genes as potential genetic and epigenetic toxicologic targets
ENVIRONMENTAL HEALTH PERSPECTIVES
Ocular colobomata
SURVEY OF OPHTHALMOLOGY
Ion channels-related diseases
ACTA BIOCHIMICA POLONICA
The speech-language pathologist: Key role in the diagnosis of velocardiofacial syndrome
AMERICAN JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
General practitioners' views on genetic screening for common diseases
BRITISH JOURNAL OF GENERAL PRACTICE
Chromosome radiosensitivity in human G2 lymphocytes and cell-cycle progression
INTERNATIONAL JOURNAL OF RADIATION BIOLOGY
Inherited and experimentally induced changes in gating kinetics of muscle nicotinic acetylcholine receptor
JOURNAL OF MOLECULAR NEUROSCIENCE
Genetic disorders in Arabs as for OMIM (TM)
SAUDI MEDICAL JOURNAL
Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea
AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY
In pursuit of new developments for gene therapy of human diseases
JOURNAL OF BIOTECHNOLOGY
The molecular basis of disorders of the red cell membrane
JOURNAL OF CLINICAL PATHOLOGY
AUTOSOMAL RECESSIVE DEFICIENCY OF COMBINED PITUITARY-HORMONES (EXCEPTACTH) IN A CONSANGUINEOUS BRAZILIAN KINDRED
Journal of endocrinological investigation
LIGHT, SIGHT AND FIGHT FOR INSIGHT
Biochimie
Approach to patients with inherited neurologic disorders
SEMINARS IN NEUROLOGY
AWARENESS AND USE OF PRENATAL-DIAGNOSIS AMONG GREEK WOMEN - A NATIONAL SURVEY
Prenatal diagnosis
677C TO 677T MUTATION IN THE 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE(MTHFR) GENE AND PLASMA HOMOCYST(E)INE LEVELS IN PATIENTS WITH TIA ORMINOR STROKE
Journal of the neurological sciences
ETIOLOGY OF PROFOUND HEARING DISORDERS IN CHILDREN
HNO. Hals-, Nasen-, Ohrenarzte
MUTATION-SELECTION BALANCE WITH MULTIPLE ALLELES
Genetica
A PROSPECTIVE 10-YEAR FOLLOW-UP-STUDY OF PATIENTS WITH NEUROFIBROMATOSIS TYPE-1
Archives of Disease in Childhood
ANALYSIS OF CLINICALLY RELEVANT, DIAGNOSTIC DNA BY CAPILLARY ZONE ANDDOUBLE-GRADIENT GEL SLAB ELECTROPHORESIS
Journal of chromatography
PRENATAL-DIAGNOSIS IN ITALY
European journal of human genetics
AUTOSOMAL RECESSIVE DEFICIENCY OF COMBINED PITUITARY-HORMONES (EXCEPTACTH) IN A CONSANGUINEOUS BRAZILIAN KINDRED
Journal of endocrinological investigation
GENETIC CAUSES OF MALE-INFERTILITY
Andrologia
CAPILLARY ELECTROPHORESIS OF DNA FOR MOLECULAR DIAGNOSTICS
Electrophoresis
CELLULAR RADIO SENSITIVITY IN HUMAN SEVERE-COMBINED-IMMUNODEFICIENCY (SCID) SYNDROMES
Radiotherapy and oncology
DOES THE GENOTYPE FOR SCHIZOPHRENIA OFTEN REMAIN UNEXPRESSED BECAUSE OF CANALIZATION AND STOCHASTIC EVENTS DURING DEVELOPMENT
Psychological medicine
OCHRE SUPPRESSOR TRANSFER-RNA RESTORED DYSTROPHIN EXPRESSION IN MDX MICE
Life sciences
GENETIC-DISORDERS AND CEREBELLAR STRUCTURAL ABNORMALITIES IN CHILDHOOD
Brain
DETECTING DISEASE-PREDISPOSING VARIANTS - THE HAPLOTYPE METHOD
American journal of human genetics
HLA CLASS-II DR-DQ AMINO-ACIDS AND INSULIN-DEPENDENT DIABETES-MELLITUS - APPLICATION OF THE HAPLOTYPE METHOD
American journal of human genetics
LOW DOSE-RATE FIBROBLAST RADIOSENSITIVITY AND THE PREDICTION OF PATIENT RESPONSE TO RADIOTHERAPY
International journal of radiation biology
GENETIC-DISORDERS OF KERATINS AND THEIR ASSOCIATED PROTEINS
Journal of dermatological science
GENDER RESPONSE TO NEUROFIBROMATOSIS .1.
Social science & medicine
MAJOR CHROMOSOMAL-ANOMALIES IN CHILDREN REFERRED FOR SUSPECTED CHROMOSOME-ABERRATIONS - A REPORT OF 1,327 CASES
Medical science research
HOW MUCH COULD THE RADIOTHERAPY DOSE BE ALTERED FOR INDIVIDUAL PATIENTS BASED ON A PREDICTIVE ASSAY OF NORMAL-TISSUE RADIOSENSITIVITY
Radiotherapy and oncology
INFLUENCE OF DEPRESSION ON COGNITIVE-FUNCTIONING IN FRAGILE-X FEMALES
Psychiatry research
DEVELOPMENTAL ANOMALIES AND CONGENITAL DI SORDERS OF THE PANCREAS
Radiologe
PLASMA PHOSPHOLIPID FATTY-ACIDS IN X-LINKED ADRENOLEUKODYSTROPHY
Clinical chemistry
MOLECULAR MECHANISMS IN RENAL PHOSPHATE REABSORPTION
Nephrology, dialysis, transplantation
HUMAN OBESITY DOES NOT SEGREGATE WITH THE CHROMOSOMAL REGIONS OF PRADER-WILLI, BARDET-BIEDL, COHEN, BORJESON OR WILSON-TURNER SYNDROMES
International journal of obesity
GENETIC PREDISPOSITION TO CHRONIC POLYPOI D SINUSITIS AND DEFICIENCY TYPES OF ALPHA-1-PROTEASE INHIBITOR
HNO. Hals-, Nasen-, Ohrenarzte
STRUCTURAL-ANALYSIS OF CFTR GENE IN CONGENITAL BILATERAL ABSENCE OF VAS-DEFERENS
Clinical chemistry
DEMONSTRATION OF INDUCTION OF ERYTHROCYTE INOSINE MONOPHOSPHATE DEHYDROGENASE-ACTIVITY IN RIBAVIRIN-TREATED PATIENTS USING A HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHY LINKED METHOD
Clinica chimica acta
THE ETHICS OF GENE-THERAPY
Journal of the Royal Society of Medicine
ON THE PROBLEM OF MYOCARDIAL BRIDGES
Kardiologia
MOLECULAR DIAGNOSIS OF ACUTE INTERMITTENT PORPHYRIA BY ANALYSIS OF DNA EXTRACTED FROM HAIR ROOTS
Clinical chemistry
AGE-RELATED REFERENCE VALUES FOR URINARY ORGANIC-ACIDS IN A HEALTHY TURKISH PEDIATRIC POPULATION
Clinical chemistry
DETECTION OF POINT MUTATIONS IN HUMAN GENES BY THE SOLID-PHASE MINISEQUENCING METHOD
Clinica chimica acta
SURGICAL-MANAGEMENT OF AORTIC DISSECTION IN PATIENTS WITH THE MARFAN-SYNDROME
Circulation
HOMOZYGOUS FACTOR-X DEFICIENCY ASSOCIATED WITH FAMILIAL HYPERCHOLESTEROLEMIA, MITRAL-VALVE PROLAPSE, AND HYPERTROPHIC CARDIOMYOPATHY
Acta haematologica
EXPRESSION INSTABILITY AND GENETIC-DISORDERS IN TRANSGENIC NICOTIANA-PLUMBAGINIFOLIA L PLANTS
Transgenic research
LACK OF CORRELATION OF HUMAN FIBROBLAST RADIOSENSITIVITY IN-VITRO WITH EARLY SKIN REACTIONS IN PATIENTS UNDERGOING RADIOTHERAPY
International journal of radiation biology
GENOMIC DAMAGE AND ITS REPAIR IN YOUNG AND AGING BRAIN
Molecular neurobiology
ADENOVIRAL VECTORS FOR GENE-TRANSFER
Advanced drug delivery reviews
JOINT CONTRACTURES, HYPERKERATOSIS, AND SEVERE HYPOPLASIA OF THE POSTERIOR COLUMNS - A NEW RECESSIVE SYNDROME
American journal of medical genetics
EVIDENCE FOR ACCELERATED SKIN WRINKLING AMONG DEVELOPMENTALLY DELAYEDINDIVIDUALS WITH DOWNS-SYNDROME
Mechanism of ageing and development
DOSE SURVIVAL OF G(0) LYMPHOCYTES IRRADIATED IN-VITRO - A TEST FOR A POSSIBLE POPULATION BIAS IN THE COHORT OF ATOMIC-BOMB SURVIVORS EXPOSED TO HIGH-DOSES
Radiation research
RADIOSENSITIVITY OF ATOMIC-BOMB SURVIVORS AS DETERMINED WITH A MICRONUCLEUS ASSAY
Radiation research
UNUSUAL THERMOLABILITY PROPERTIES OF LEUKOCYTE BETA-HEXOSAMINIDASE - IMPLICATIONS IN SCREENING FOR CARRIERS OF TAY-SACHS-DISEASE
Clinical chemistry
CLASSIFICATION OF GENETIC DYSLIPOPROTEINE MIAS
Annales de medecine interne