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Testing for prerequisites of local adaptation in an insect herbivore, Epirrita autumnata
ECOSCIENCE
Congenital erythropoietic porphyria: Prenatal diagnosis and autopsy findings in two sibling fetuses
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
The family based association test method: strategies for studying general genotype-phenotype associations
EUROPEAN JOURNAL OF HUMAN GENETICS
Fuhrmann syndrome associated with cortical dysplasia
GENETIC COUNSELING
Cystic hygroma colli as the first echographic sign of the fetal akinesia sequence
GENETIC COUNSELING
Lack of progression of brain atrophy in Aicardi-Goutieres syndrome
PEDIATRIC NEUROLOGY
To type or not to type: The use of unaffected siblings in nonparametric linkage analysis
GENETIC EPIDEMIOLOGY
Restrictive dermopathy: report of a case and review of the literature
JOURNAL OF CUTANEOUS PATHOLOGY
Neonatal lethal dwarfism with distinct skeletal malformations - a separateentity?
PEDIATRIC RADIOLOGY
Walker-Warburg syndrome - Case report and review of the literature
JOURNAL OF ULTRASOUND IN MEDICINE
Early ultrasound diagnosis of Neu-Laxova syndrome
PRENATAL DIAGNOSIS
Sib understanding of genetics and attitudes toward carrier testing for X-linked severe combined immunodeficiency
AMERICAN JOURNAL OF MEDICAL GENETICS
Family pictures: Growing up with a brother with X-linked severe combined immunodeficiency
AMERICAN JOURNAL OF MEDICAL GENETICS
Dominant paternal transmission of Cornelia de Lange syndrome: A new case and review of 25 previously reported familial recurrences
AMERICAN JOURNAL OF MEDICAL GENETICS
Dentinogenesis imperfecta-associated syndromes
AMERICAN JOURNAL OF MEDICAL GENETICS
Cancer in siblings of children with cancer in the Nordic countries: a population-based cohort study
LANCET
Optimal sibship selection for genotyping in quantitative trait locus linkage analysis
HUMAN HEREDITY
New case of Beemer-Langer syndrome
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
Familial prostate cancer from the family-cancer database
EUROPEAN JOURNAL OF CANCER
Neonatal hemochromatosis: five cases.
ARCHIVES DE PEDIATRIE
Familial cancer risks in affected sibships: Results from the Swedish Family-Cancer Database
GENETIC EPIDEMIOLOGY
Interchromosomal insertions - Identification of five cases and a review
HUMAN GENETICS
3-Methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father
EUROPEAN JOURNAL OF PEDIATRICS
Wolf-Hirschorn syndrome resulting from partial monosomy 4p/trisomy 9p
AMERICAN JOURNAL OF MEDICAL GENETICS
Clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia: A newly defined syndrome
AMERICAN JOURNAL OF MEDICAL GENETICS
Homogeneity of the age at diagnosis in sibs with type 2 diabetes: Implications for sib-pair analysis
AMERICAN JOURNAL OF MEDICAL GENETICS
Genetic improvement of the BR 5033-Asa Branca corn cultivar in the Brazilian northeast region
PESQUISA AGROPECUARIA BRASILEIRA
Walker-Warburg Syndrome in an adult?
KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE
Thoracolumbar kyphoscoliosis in Larsen's syndrome - A case report
CLINICAL ORTHOPAEDICS AND RELATED RESEARCH
Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia
CLINICAL GENETICS
Spark-induced breakdown spectroscopy: A new technique for monitoring heavymetals
APPLIED SPECTROSCOPY
Why is acute leukemia more common in males? A possible sex-determined risklinked to the ABO blood group genes
ANNALS OF HEMATOLOGY
Evidence that AEC syndrome and Bowen-Armstrong syndrome are variable expressions of the same disease
PEDIATRIC DERMATOLOGY
What syndrome is this? Restrictive dermopathy
PEDIATRIC DERMATOLOGY
Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency
EUROPEAN JOURNAL OF PEDIATRICS
Familial bilateral congenital diaphragmatic hernia
PEDIATRIC SURGERY INTERNATIONAL
A distinct difference in clinical expression of two siblings with Aicardi-Goutieres syndrome
NEUROPEDIATRICS
Restrictive dermopathy
PATHOLOGE
Molecular genetic evidence for the prevalence of outcrossing in the hermaphroditic brooding bryozoan Celleporella hyalina
MARINE ECOLOGY-PROGRESS SERIES
"My crooked vision": The well sib views ataxia-telangiectasia
AMERICAN JOURNAL OF MEDICAL GENETICS
A mark on the arm: Myths of carrier status in sibs of individuals with ataxia-telangiectasia
AMERICAN JOURNAL OF MEDICAL GENETICS
Pulmonary agenesis, microphthalmia, and diaphragmatic defect (PMD): New syndrome or association?
AMERICAN JOURNAL OF MEDICAL GENETICS
Syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification
AMERICAN JOURNAL OF MEDICAL GENETICS
Microsatellite analysis of maternal half-sib families of Quercus robur, pedunculate oak: detection of seed contaminations and inference of the seed parents from the offspring
THEORETICAL AND APPLIED GENETICS
Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes
JOURNAL OF MEDICAL GENETICS
Cystic kidney disease presenting in infancy
CLINICAL RADIOLOGY
THE AUTOSOMAL RECESSIVE CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME OF MICROCEPHALY, INTRACRANIAL CALCIFICATION, AND CNS DISEASE - REPORT OF ANOTHER BEDOUIN FAMILY
Clinical dysmorphology
EARLY TRANSVAGINAL ULTRASONOGRAPHIC DIAGNOSIS OF BEEMER-LANGER DYSPLASIA - A REPORT OF 2 CASES
Ultrasound in obstetrics & gynecology
EARLY SONOGRAPHIC ASPECTS OF KIDNEY MORPHOLOGY IN BARDET-BIEDL-SYNDROME
Pediatric nephrology
PARTIAL 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY IN AN INFANT WITHFATAL OUTCOME DUE TO PROGRESSIVE RESPIRATORY-FAILURE
European journal of pediatrics
Iron and copper-associated cirrhosis in infants - Acquired metal toxicity or genetic disorder?
CLINICS IN LABORATORY MEDICINE
A CASE OF PROBABLE AUTOSOMAL RECESSIVE ECTODERMAL DYSPLASIA WITH CORKSCREW HAIRS AND MENIAL RETARDATION IN A FAMILY WITH TUBEROUS SCLEROSIS
Journal of the American Academy of Dermatology
AUTOSOMAL RECESSIVE MICROCEPHALY WITH NEONATAL MYOCLONIC SEIZURES - CLINICAL AND MRI FINDINGS
American journal of medical genetics
INCIDENCE AND SIGNIFICANCE OF 22Q11.2 HEMIZYGOSITY IN PATIENTS WITH INTERRUPTED AORTIC-ARCH
American journal of medical genetics
PRENATAL GROWTH-RETARDATION, PELVIC HYPOPLASIA, AND ARTHROGRYPOTIC CHANGES OF LOWER-LIMBS - A DISTINCT AUTOSOMAL-RECESSIVE DISORDER
American journal of medical genetics
SPASTIC PARAPLEGIA, OPTIC ATROPHY, MICROCEPHALY WITH NORMAL INTELLIGENCE, AND XY SEX REVERSAL - A NEW AUTOSOMAL RECESSIVE SYNDROME
Journal of Medical Genetics
THE PERFORMANCE OF MIM IN COMPARISON WITH MAPMAKER SIBS TO DETECT QTL/
Genetic epidemiology
ISOLATED 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY IN A 15-YEAR-OLDGIRL
Brain & development
AN ASYMPTOMATIC INFANT WITH ISOLATED 3-METHYLCROTONYL COENZYME-A CARBOXYLASE DEFICIENCY DETECTED BY NEWBORN SCREENING FOR MAPLE-SYRUP-URINE-DISEASE
European journal of pediatrics
ARTHROGRYPOSIS MULTIPLEX CONGENITA, CRANIOFACIAL, AND OPHTHALMOLOGICAL ABNORMALITIES AND NORMAL INTELLIGENCE - A NEW SYNDROME
American journal of medical genetics
RESTRICTIVE DERMOPATHY - REPORT AND REVIEW
American journal of medical genetics
FAMILIAL APLASIA HYPOPLASIA OF PELVIS, FEMUR, FIBULA, AND ULNA WITH ABNORMAL DIGITS IN AN INBRED PAKISTANI MUSLIM FAMILY - A POSSIBLE NEW AUTOSOMAL RECESSIVE DISORDER WITH OVERLAPPING MANIFESTATIONS OF THE SYNDROMES OF FUHRMANN, AL-AWADI, AND RAAS-ROTHSCHILD
American journal of medical genetics
LIMB-PELVIS HYPOPLASIA APLASIA - A DISCRETE ENTITY IN THE FIBULOULNARDEVELOPMENTAL FIELD COMPLEX/
American journal of medical genetics
SONOGRAPHIC SURVEY OF THE UPPER ABDOMEN IN 10 FAMILIES OF PATIENTS WITH IMMOTILE CILIA-SYNDROME
Journal of clinical ultrasound
CANCER RISK IN FIRST-DEGREE RELATIVES OF CHILDREN WITH MALIGNANT-TUMORS (PROVINCE OF TRIESTE, ITALY)
International journal of cancer
IMPAIRED GLUCOSE-TOLERANCE DURING PREGNANCY IS ASSOCIATED WITH INCREASED FETAL MORTALITY IN PRECEDING SIBS
Acta obstetricia et gynecologica Scandinavica
NEU-LAXOVA-SYNDROME - A CASE-REPORT
Rivista italiana di pediatria
FURTHER CONCEPTS ON REGULATORS OF THE SEX-RATIO IN HUMAN OFFSPRING - NONOPTIMAL MATURATION OF OOCYTES AND THE SEX-RATIO
Human reproduction
FAMILIAL OCCURRENCE OF CONGENITAL DIAPHRAGMATIC-HERNIA - FATHER-TO-SON INHERITANCE
Pediatric surgery international
A REVISED AND EXTENDED CLASSIFICATION OF THE DISTAL ARTHROGRYPOSES
American journal of medical genetics
A NEW OBSERVATION OF 2 CASES OF ACROFACIAL DYSOSTOSIS TYPE GENEE-WIEDEMANN IN A FAMILY - REMARKS ON THE MODE OF INHERITANCE - REPORT ON 2 SIBS
American journal of medical genetics
CONCORDANCE FOR CHILDHOOD-CANCER IN TWINS
Medical and pediatric oncology
ETIOLOGIC AND GENETIC-FACTORS IN CONGENITAL DIAPHRAGMATIC-HERNIA
Clinics in perinatology
METHODS FOR MULTIPLE-MARKER MAPPING OF QUANTITATIVE TRAIT LOCI IN HALF-SIB POPULATIONS
Theoretical and Applied Genetics
QUANTITATIVE VARIATION WITHIN AND AMONG POPULATIONS OF ARABIS-SERRATAFR AND SAV (BRASSICACEAE)
Biological Journal of the Linnean Society
PALLISTER-HALL SYNDROME
Journal of Medical Genetics
RECURRENCE OF NEONATAL HEMOCHROMATOSIS IN HALF SIBS BORN OF UNAFFECTED MOTHERS
Journal of Medical Genetics
CYTOLOGICALLY DISTINCT ACUTE-LEUKEMIA IN SIBS EXPOSED TO THE SAME LEUKEMOGEN
Haematologia
SHORT RIB POLYDACTYLY SYNDROME IN TWINS - BEEMER-LANGER TYPE WITH POLYDACTYLY
Clinical genetics
4 SIBLINGS WITH ACHALASIA, ALACRIMIA AND NEUROLOGICAL ABNORMALITIES IN A CONSANGUINEOUS FAMILY
Clinical genetics
PATTERNS OF CHILDHOOD-CANCER AMONG SIBLINGS
British Journal of Cancer
NEU-LAXOVA SYNDROME - PATHOLOGICAL EVALUATION OF A FETUS AND REVIEW OF THE LITERATURE
PEDIATRIC PATHOLOGY & LABORATORY MEDICINE
NEUROLOGIC AND OTHER DISORDERS IN RELATIVES OF PEDIATRIC-PATIENTS WITH CNS TUMORS
Pediatric neurology
GENETIC EVALUATION, MULTIPLE-TRAIT SELECTION CRITERIA AND GENETIC THINNING OF PINUS-CONTORTA VAR LATIFOLIA SEED ORCHARDS IN SWEDEN
Scandinavian journal of forest research
BARRIERS TO CARRIER TESTING FOR ADULT CYSTIC-FIBROSIS SIBS - THE IMPORTANCE OF NOT KNOWING
American journal of medical genetics
APLASIA-CUTIS-CONGENITA ASSOCIATED WITH LIMB, EYE, AND BRAIN ANOMALIES IN SIBS - A VARIANT OF THE ADAMS-OLIVER SYNDROME
American journal of medical genetics
NEW MANIFESTATIONS IN AN INFANT WITH NEU-LAXOVA SYNDROME
American journal of medical genetics
THE AICARDI-GOUTIERES SYNDROME (FAMILIAL, EARLY-ONSET ENCEPHALOPATHY WITH CALCIFICATIONS OF THE BASAL GANGLIA AND CHRONIC CEREBROSPINAL-FLUID LYMPHOCYTOSIS)
Journal of Medical Genetics
ABSENCE HYPOPLASIA OF TIBIA, POLYDACTYLY, RETROCEREBELLAR ARACHNOID CYST, AND OTHER ANOMALIES - AN AUTOSOMAL RECESSIVE DISORDER
Journal of Medical Genetics
INTERNATIONAL INCIDENCE OF CHILDHOOD BRAIN AND SPINAL TUMORS
International journal of epidemiology
FAMILIAL DANDY-WALKER MALFORMATION ASSOCIATED WITH MACROCEPHALY, FACIAL ANOMALIES, DEVELOPMENTAL DELAY, AND BRAIN-STEM DYSGENESIS - PRENATAL-DIAGNOSIS AND POSTNATAL OUTCOME IN BROTHERS - A NEW SYNDROME
American journal of medical genetics
AUTOSOMAL RECESSIVE PROXIMAL SPINAL MUSCULAR-ATROPHY IN 101 SIBS OUT OF 48 FAMILIES - CLINICAL PICTURE, INFLUENCE OF GENDER, AND GENETIC-IMPLICATIONS
American journal of medical genetics
TETRA-AMELIA, LUNG HYPO- APLASIA, CLEFT LIP-PALATE, AND HEART DEFECT - A NEW SYNDROME/
American journal of medical genetics
AUTOSOMAL RECESSIVE CONGENITAL DIAPHRAGMATIC DEFECTS IN THE ARABS
American journal of medical genetics
DELINEATION OF THE DA-SILVA SYNDROME
American journal of medical genetics
ESTIMATION OF HERITABILITY OF SOME CHARACTERISTICS OF HIND LEGS AND WINGS OF HONEYBEE WORKERS (APIS-MELLIFERA-CARNICA POLM) USING THE HALF-SIBS METHOD
Apidologie
SYNDACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP PALATE/
Journal of Medical Genetics
GENETIC CONSTRAINTS ON MATING SYSTEM EVOLUTION IN THE CLEISTOGAMOUS ANNUAL IMPATIENS-PALLIDA - INBREEDING IN CHASMOGAMOUS FLOWERS
Heredity
FAMILIAL LEUKEMIA - DESCRIPTION OF 2 KINDREDS AND A REVIEW OF THE GENETIC-ASPECTS OF THE DISEASE
Acta haematologica
FETAL AKINESIA HYPOKINESIA SEQUENCE - PRENATAL-DIAGNOSIS AND INTRA-FAMILIAL VARIABILITY
Prenatal diagnosis