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Rufous albinism
JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS
A mutation (2314delG) in the usher syndrome type IIA gene: High prevalenceand phenotypic variation
AMERICAN JOURNAL OF HUMAN GENETICS
A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25
AMERICAN JOURNAL OF HUMAN GENETICS
A COMPARISON OF DISEASE AND GENE-FREQUENCIES OF INBORN-ERRORS OF METABOLISM AMONG DIFFERENT ETHNIC-GROUPS IN THE WEST MIDLANDS, UK
Journal of Medical Genetics
MUTATIONS IN THE MYOSIN VIIA GENE CAUSE A WIDE PHENOTYPIC SPECTRUM, INCLUDING ATYPICAL USHER-SYNDROME
American journal of human genetics
A NOVEL MECHANISM OF ABERRANT PRE-MESSENGER-RNA SPLICING IN HUMANS
Human molecular genetics
FEW PSYCHOLOGICAL CONSEQUENCES OF PRESYMPTOMATIC TESTING FOR HUNTINGTON DISEASE
Lancet
FRAGILE-X-SYNDROME IS LESS COMMON THAN PREVIOUSLY ESTIMATED
Journal of Medical Genetics
ARE GENETIC-DISEASES LESS COMMON THAN EXPECTED IN AFRO-CARIBBEAN
Journal of Medical Genetics
PREVALENCE AND TYPE OF CEREBRAL-PALSY
Developmental Medicine and Child Neurology
SYMMETRY OF NEUROLOGICAL SIGNS IN PAKISTANI PATIENTS WITH PROBABLE INHERITED SPASTIC CEREBRAL-PALSY
Clinical genetics
USHER-SYNDROME IN THE CITY OF BIRMINGHAM - PREVALENCE AND CLINICAL CLASSIFICATION
British journal of ophthalmology
EVIDENCE FOR LOCUS HETEROGENEITY IN HALLERVORDEN-SPATZ-SYNDROME
American journal of human genetics
ERG AND EOG ABNORMALITIES IN CARRIERS OF X-LINKED RETINITIS-PIGMENTOSA
Eye
THE REPRESENTATION OF ETHNIC-MINORITIES AT GENETIC CLINICS IN BIRMINGHAM
Journal of Medical Genetics
LINKAGE OF WOLFRAM-SYNDROME TO CHROMOSOME 4P16.1 AND EVIDENCE FOR HETEROGENEITY
American journal of human genetics
DIDMOAD SYNDROME - FURTHER-STUDIES AND MUSCLE BIOCHEMISTRY
Journal of inherited metabolic disease
DIDMOAD SYNDROME - A DEGENERATIVE DILEMMA
Journal of Medical Genetics
FRAGILE-X SYNDROME IS LESS COMMON THAN PREVIOUSLY ESTIMATED
Journal of Medical Genetics
DIDMOAD SYNDROME - CONFIRMATION OF LINKAGE TO CHROMOSOME-4P, EVIDENCEFOR LOCUS HETEROGENEITY AND A PATIENT WITH UNIPARENTAL ISODISOMY FOR CHROMOSOME-49
American journal of human genetics
CLINICAL AND GENETIC FEATURES OF ATAXIA-TELANGIECTASIA
International journal of radiation biology
MUTATIONS OF THE P-GENE IN OCULOCUTANEOUS ALBINISM, OCULAR ALBINISM, AND PRADER-WILLI-SYNDROME PLUS ALBINISM
The New England journal of medicine
X-INACTIVATION STUDIES IN FEMALE MONOZYGOTIC TWINS
Journal of Medical Genetics
RETINITIS-PIGMENTOSA FAMILIES SHOWING APPARENT X-LINKED INHERITANCE BUT UNLINKED TO THE RP2 OR RP3 LOCI
Journal of Medical Genetics
X-INACTIVATION PATTERNS IN FEMALE MONOZYGOTIC TWINS AND THEIR FAMILIES
Journal of Medical Genetics
DUPLICATION OF THE 15Q11-13 REGION IN A PATIENT WITH AUTISM, EPILEPSYAND ATAXIA
Developmental Medicine and Child Neurology
HETEROGENEITY ANALYSIS IN 40 X-LINKED RETINITIS-PIGMENTOSA FAMILIES
American journal of human genetics
A MUTATION IN THE NORRIE DISEASE GENE (NDP) ASSOCIATED WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY
Nature genetics
WOLFRAM-SYNDROME - MITOCHONDRIAL DISORDER
Lancet
MITOCHONDRIAL MYOPATHY ASSOCIATED WITH SUDDEN-DEATH IN YOUNG-ADULTS AND A NOVEL MUTATION IN THE MITOCHONDRIAL-DNA LEUCINE TRANSFER RNA(UUR)GENE
Quarterly Journal of Medicine
IS SKEWED X-INACTIVATION RESPONSIBLE FOR SYMPTOMS IN FEMALE CARRIERS FOR ADRENOLEUKODYSTROPHY
Journal of Medical Genetics
LOW SEGREGATION RATIOS IN AUTOSOMAL RECESSIVE DISORDERS
Journal of Medical Genetics
MUTATIONS OF THE TYROSINASE GENE IN INDO-PAKISTANI PATIENTS WITH TYPE-I (TYROSINASE-DEFICIENT) OCULOCUTANEOUS ALBINISM (OCA)
American journal of human genetics
IDENTIFICATION OF A MUTATION IN THE NORRIE DISEASE GENE (NDP) IN AFFECTED MEMBERS OF A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY
American journal of human genetics
X-LINKED EXUDATIVE VITREORETINOPATHY - CLINICAL-FEATURES AND LINKAGE ANALYSIS
Investigative ophthalmology & visual science