• A family with retinitis pigmentosa and ESRD with late presentation, hypertension and absence of polyuria or salt wasting
• A syndrome including thumb malformations, microcephaly, short stature, and hypogonadism
• Anorectal malformations and Down syndrome
• Are the wolffian anomalies in males the phenotype corresponding to the müllerian anomalies in females?
• Arylsulfatase A pseudodeficiency: a common polymorphism which is associated with a unique haplotype
• Asplenia and polysplenia syndromes with abnormalities of lateralisation in a sibship
• Autosomal dominant inheritance of Klein-Waardenburg syndrome
• Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: report of a Brazilian family
• Autosomal recessive diseases among Palestinian Arabs
• Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: the Zlotogora-Ogur syndrome
• Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis
• Behr's syndrome and 3-methylglutaconic aciduria
• Biallelic variants in PAX3 cause Klein syndrome
• Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay
• Carcinoma of the large bowel and Bloom's syndrome
• Classification of aplasia cutis congenita: a 25-year review of cases presenting to a tertiary paediatric dermatology department
• Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome?
• Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome
• Clinical, genetic, epidemiologic, evolutionary, and functional delineation of <em>TSPEAR</em>-related autosomal recessive ectodermal dysplasia 14
• Combined enzymatic and linkage analysis for heterozygote detection in Hunter syndrome: identification of an apparent case of germinal mosaicism
• Compliance for genetic screening in the Arab population in Israel
• Dental management of a child with ectrodactyly ectodermal dysplasia cleft lip/palate syndrome: A case report
• Detection of chromosome aberrations during prenatal genetic testing for single gene disorders
• Dominance and homozygosity
• Ectodermal dysplasia, cleft lip/palate, and severe cutaneous and osseous syndactyly in a mentally retarded girl: a new multiple malformation syndrome
• Fetal duodenal obstruction. A high risk indicator for Down's syndrome
• Genetic disorders among Palestinian Arabs: 1. Effects of consanguinity
• Genetic disorders among Palestinian Arabs. 2. Hydrocephalus and neural tube defects
• Genetic drift: an ambiguous inheritance
• Genetic mapping of a novel X-linked recessive colobomatous microphthalmia
• Gerodermia osteodysplastica: report on two patients and surgical correction of facial deformity
• Hereditary disorders among Iranian Jews
• Heterozygote detection in Hunter syndrome
• High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel
• Homozygosity for Waardenburg syndrome
• Hunter syndrome among Ashkenazi Jews in Israel; evidence for prenatal selection favoring the Hunter allele
• Hunter syndrome among Jews in Israel
• Hunter syndrome in Jews in Israel: further evidence for prenatal selection favoring the Hunter allele
• Hunter syndrome: prenatal diagnosis in maternal serum
• Hunter's syndrome: activity of iduronate sulfate sulfatase in the serum of pregnant heterozygotes
• Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans
• Is there a relation between Klippel-Feil sequence and Kallmann syndrome?
• Isochromosome 18p in a mother and her child
• Jancar syndrome: mental retardation, spasticity, and distal transverse limbs defects
• Kohlschutter-Tonz syndrome: epilepsy, dementia, and amelogenesis imperfecta
• Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9
• Mental retardation, spasticity, and transverse limb defects
• Misleading findings of homozygosity mapping resulting from three novel mutations in NPHS1 encoding nephrin in a highly inbred community
• Mucolipidosis III and Bardet-Biedl syndrome in the same family: diagnostic pitfalls
• Multiple periorbital dermoid cysts, clefting and mental retardation: a new malformation syndrome?
• MURCS in a male
• Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome
• Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome
• Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia
• Novel homozygous mutation, c.400C&gt;T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient
• Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient
• On the inheritance of "new" syndromes
• On the inheritance of the split hand/split foot malformation
• Parental decisions to abort or continue a pregnancy with an abnormal finding after an invasive prenatal test
• Polyglandular autoimmune syndrome type I among Iranian Jews
• Prenatal exclusion of Stickler syndrome
• Prenatal testing for genetic disorders among Arabs
• Problems in diagnosis and delineation of inherited disorders in highly inbred populations
• Recessive or dominant? Reclassification in the molecular age
• Selection for carriers of recessive diseases: a common phenomenon?
• Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G&gt;C variant?
• Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?
• Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes
• Surveillance of neural tube defects in Israel
• Syndactyly, ectodermal dysplasia, and cleft lip and palate
• Syndactyly, ectodermal dysplasia, and cleft lip/palate
• Syndrome of brittle cornea, blue sclera, and joint hyperextensibility
• Syndrome of tetraamelia with pulmonary hypoplasia
• The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types
• The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations
• The effects of a connexin 26 mutation--35delG--on oto-acoustic emissions and brainstem evoked potentials: homozygotes and carriers
• The impact of congenital malformations and Mendelian diseases on infant mortality in Israel
• The incidence, risk factors and impact of acute kidney injury in hospitalized patients due to COVID-19
• The Israeli national population program of genetic carrier screening for reproductive purposes
• The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel
• Thomas syndrome: potter sequence with cleft lip/palate and cardiac anomalies
• TP63-related disorders: two case reports and a brief review of the literature
• Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations
• Utilization of prenatal diagnosis and termination of pregnancies for the prevention of Down syndrome in Israel
• Variability of Stickler syndrome
• Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder
• X-linked albinism-deafness syndrome and Waardenburg syndrome type II: a hypothesis