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PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse.
- Published in:
- Human Genetics, 2003, v. 112, n. 5/6, p. 573, doi. 10.1007/s00439-003-0917-5
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- Publication type:
- Article
London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM [Version 3] 2001: R. M. Winter, M. Baraitser, Oxford University Press, ISBN 019851-780, £1595.
- Published in:
- Human Genetics, 2002, v. 111, n. 1, p. 113, doi. 10.1007/s00439-002-0759-6
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- Publication type:
- Article
Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia.
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- Prenatal Diagnosis, 2013, v. 33, n. 13, p. 1283, doi. 10.1002/pd.4244
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- Publication type:
- Article
Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders.
- Published in:
- 2004
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- Publication type:
- Report
Physical map of a 1.5 Mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 8, p. 561, doi. 10.1038/sj.ejhg.5200497
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- Publication type:
- Article
Cytogenetic Findings in Moderate and Severe Mental Retardation A Study of an Institutionalized Population of 1991 Patients.
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- Acta Paediatrica, 1984, v. 73, n. s313, p. 3, doi. 10.1111/j.1651-2227.1984.tb10001.x
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- Publication type:
- Article
Complex Chromosomal Rearrangement in a Mentally Retarded Boy without Gross Dysmorphic Stigmata.
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- Acta Paediatrica, 1984, v. 73, n. 1, p. 138, doi. 10.1111/j.1651-2227.1984.tb09914.x
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- Publication type:
- Article
CONGENITAL BOWING OF THE LONG BONES.
- Published in:
- Acta Paediatrica, 1983, v. 72, n. 5, p. 789, doi. 10.1111/j.1651-2227.1983.tb09816.x
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- Publication type:
- Article
X-linked neuropathy: Gene localization with DNA probes.
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- Annals of Neurology, 1986, v. 20, n. 4, p. 527, doi. 10.1002/ana.410200414
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- Publication type:
- Article
A Case of Holoprosencephaly and 13q Deletion.
- Published in:
- Ultrasound, 2009, v. 17, n. 4, p. 231, doi. 10.1179/174227109X12500735818142
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- Publication type:
- Article
Neonatal haemochromatosis.
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- Histopathology, 1990, v. 17, n. 4, p. 345, doi. 10.1111/j.1365-2559.1990.tb00739.x
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- Publication type:
- Article
The cardiofaciocutaneous syndrome: prenatal findings in two patients.
- Published in:
- Prenatal Diagnosis, 2008, v. 28, n. 1, p. 53, doi. 10.1002/pd.1891
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- Publication type:
- Article
Distinct prenatal ultrasonographic cranial and cerebral findings in terminal deletion of the short arm of chromosome 1.
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- Prenatal Diagnosis, 2002, v. 22, n. 9, p. 831, doi. 10.1002/pd.402
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- Publication type:
- Article
Prenatal findings in a monozygotic twin pregnancy with Costello syndrome.
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- Prenatal Diagnosis, 2002, v. 22, n. 5, p. 415, doi. 10.1002/pd.333
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- Publication type:
- Article
Split-hand/split-foot malformation with paternal mutation in the p63 gene.
- Published in:
- 2001
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- Publication type:
- journal article
Prenatal diagnosis of facial clefting as part of the oculo-auriculo-vertebral spectrum.
- Published in:
- 2001
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- Publication type:
- journal article
Letter to the editor. Mental status and psychosocial functioning in XYY males.
- Published in:
- Prenatal Diagnosis, 1998, v. 18, n. 3, p. 303, doi. 10.1002/(SICI)1097-0223(199803)18:3<303::AID-PD246>3.0.CO;2-Q
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- Publication type:
- Article
Prenatal diagnosis of a terminal short arm deletion of chromosome 8 in a fetus with an atrioventricular septal defect.
- Published in:
- 1998
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- Publication type:
- journal article
Prenatal diagnosis and long survival of Fryns syndrome.
- Published in:
- 1995
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- Publication type:
- case study
Late-onset isolated cystic hygroma. A first clinical sign of Proteus syndrome.
- Published in:
- 1995
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- Publication type:
- commentary
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.
- Published in:
- Molecular Psychiatry, 2010, v. 15, n. 7, p. 767, doi. 10.1038/mp.2009.14
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- Publication type:
- Article
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.
- Published in:
- Kidney International, 2006, v. 70, n. 6, p. 1155, doi. 10.1038/sj.ki.5001728
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- Publication type:
- Article
Acro-Osteolysis and Symphalangism Mutations.
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- Journal of Bone & Mineral Research, 2005, v. 20, n. 1, p. 159, doi. 10.1359/JBMR.041023
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- Publication type:
- Article
Oculocerebral Hypopigmentation Syndrome Maps to Chromosome 3q27.1q29.
- Published in:
- Dermatology (10188665), 2012, v. 223, n. 4, p. 306, doi. 10.1159/000335609
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- Publication type:
- Article
Twin reversed arterial perfusion sequence presenting as intrauterine cyst.
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- Ultrasound in Obstetrics & Gynecology, 2013, v. 42, n. 6, p. 724, doi. 10.1002/uog.13226
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- Publication type:
- Article
A case of left isomerism with early fetal decompensation.
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- 2007
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- Publication type:
- case study
Prenatal diagnosis of schizencephaly after inhalation of organic solvents.
- Published in:
- 2007
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- Publication type:
- Letter
Increased nuchal translucency thickness in thrombocytopenia-absent-radius syndrome.
- Published in:
- 2005
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- Publication type:
- case study
Anogenital malformation with ambiguous genitalia as part of the OEIS complex.
- Published in:
- 2004
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- Publication type:
- case study
Personality profiles of youngsters with Prader-Willi syndrome and youngsters attending regular schools.
- Published in:
- Journal of Intellectual Disability Research, 1995, v. 39, n. 3, p. 241, doi. 10.1111/j.1365-2788.1995.tb00506.x
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- Publication type:
- Article
The partial monosomy 10q syndrome: report on two patients and review of the developmental data.
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- Journal of Intellectual Disability Research, 1991, v. 35, n. 3, p. 259, doi. 10.1111/j.1365-2788.1991.tb01059.x
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- Publication type:
- Article
The 49, XXXXY syndrome: clinical and psychological findings in five patients.
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- Journal of Intellectual Disability Research, 1990, v. 34, n. 3, p. 277, doi. 10.1111/j.1365-2788.1990.tb01539.x
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- Publication type:
- Article
A genetic diagnostic survey in an institutionalized population of 262 moderately mentally retarded patients: the Borgerstein experience.
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- Journal of Intellectual Disability Research, 1990, v. 34, n. 1, p. 29, doi. 10.1111/j.1365-2788.1990.tb01512.x
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- Publication type:
- Article
Psychological findings in three children with ring 15 chromosome.
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- Journal of Intellectual Disability Research, 1988, v. 32, n. 4, p. 337, doi. 10.1111/j.1365-2788.1988.tb01422.x
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- Publication type:
- Article
Preaxial polydactyly type 1 and severe language deficit in maternal uniparental disomy of chromosome 7.
- Published in:
- 2000
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- Publication type:
- case study
Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counselling.
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- 1998
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- Publication type:
- journal article
Vesico-ureteral reflux: a genetic condition?
- Published in:
- 1998
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- Publication type:
- journal article
Cerebellar hypoplasia in a patient with velo-cardio-facial syndrome.
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- 1996
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- Publication type:
- journal article
Deletions in the VPS13B ( COH1) gene as a cause of Cohen syndrome.
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- Human Mutation, 2009, v. 30, n. 9, p. E845, doi. 10.1002/humu.21065
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- Publication type:
- Article
Parental perception of sleep behaviour and sleep disorders in children with VCFS and their siblings.
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- Journal of Intellectual Disability Research, 2008, v. 52, n. 10, p. 815, doi. 10.1111/j.1365-2788.2008.01119_16.x
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- Publication type:
- Article
Molecular karyotyping is important in determining the cause of behavioural phenotypes.
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- Journal of Intellectual Disability Research, 2008, v. 52, n. 10, p. 813, doi. 10.1111/j.1365-2788.2008.01119_6.x
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- Publication type:
- Article
Intellectual abilities in a large sample of children with Velo–Cardio–Facial Syndrome: an update.
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- Journal of Intellectual Disability Research, 2007, v. 51, n. 9, p. 666, doi. 10.1111/j.1365-2788.2007.00955.x
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- Publication type:
- Article
Behavioural, academic and neuropsychological profile of normally gifted Neurofibromatosis type 1 children.
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- Journal of Intellectual Disability Research, 2005, v. 49, n. 1, p. 33, doi. 10.1111/j.1365-2788.2005.00660.x
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- Publication type:
- Article
Prader–Willi syndrome: new insights in the behavioural and psychiatric spectrum.
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- Journal of Intellectual Disability Research, 2002, v. 46, n. 1, p. 41, doi. 10.1046/j.1365-2788.2002.00354.x
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- Publication type:
- Article
Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 6, p. 584, doi. 10.1111/j.1399-0004.2011.01684.x
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- Publication type:
- Article
DISC1 duplication in two brothers with autism and mild mental retardation.
- Published in:
- Clinical Genetics, 2010, v. 77, n. 4, p. 389, doi. 10.1111/j.1399-0004.2009.01318.x
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- Publication type:
- Article
Novel PORCN mutations in focal dermal hypoplasia.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 6, p. 535, doi. 10.1111/j.1399-0004.2009.01248.x
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- Publication type:
- Article
Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly.
- Published in:
- 2006
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- Publication type:
- Letter
ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism.
- Published in:
- 2004
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- Publication type:
- Letter
X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms.
- Published in:
- Clinical Genetics, 2002, v. 62, n. 6, p. 423, doi. 10.1034/j.1399-0004.2002.620601.x
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- Publication type:
- Article