Autosomal recessive disorders among Arabs: an overview from Kuwait.

TOXIC-SHOCK SYNDROME NOT ASSOCIATED WITH MENSTRUATION

1982 • 1,169 citations

Familial Mediterranean Fever

2012 • 1,021 citations

Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes.

1967 • 1,002 citations

Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings

1989 • 224 citations

Consanguineous marriage in Jordan

1992 • 224 citations

CONGENITAL HYPOPLASTIC ANEMIA

2009 • 188 citations

Consanguineous matings in the Egyptian population.

1983 • 180 citations

Severe childhood muscular dystrophy affecting both sexes and frequent in tunisia

1983 • 179 citations

Consanguinity among the Kuwaiti population

1985 • 162 citations

Congenital Chloride Diarrhea

1982 • 155 citations

Genetic Disorders Among the Jewish People.

1980 • 128 citations

Familial Mediterranean Fever (Recurrent Hereditary Polyserositis) in Arabs - A Study of 175 Patients and Review of the Literature

1986 • 127 citations

Proceedings of the First International Conference on

2013 • 124 citations

MONGOLISM*

1961 • 120 citations

Evidence for genetic control of nondisjunction in man.

1980 • 118 citations

Marked parental consanguinity as a cause for increased major malformations in an Israeli Arab community

1992 • 109 citations

Distribution of Sickle-cell Hæmoglobin in Saudi Arabia

1963 • 99 citations

Familial Erythrophagocytic Lymphohistiocytosis

1963 • 98 citations

Bardet‐Biedl and Laurence‐Moon syndromes in a mixed Arab population

1988 • 84 citations

Inheritance of idiopathic torsion dystonia among Jews.

1984 • 82 citations

Carbonic Anhydrase II Deficiency Syndrome: Recessive Osteopetrosis With Renal Tubular Acidosis and Cerebral Calcification

1986 • 81 citations

Neurometabolic Diseases at a National Referral Center: Five Years Experience at the King Faisal Specialist Hospital and Research Centre

1992 • 60 citations

Marble Brain Disease: Recessive Osteopetrosis, Renal Tubular Acidosis and Cerebral Calcification in Three Saudi Arabian Families

1980 • 59 citations

Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population.

1977 • 54 citations

Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome.

1985 • 52 citations

Medical Genetic Studies of the Amish.

1978 • 51 citations

High incidence of Meckel's syndrome in Gujarati Indians.

1985 • 49 citations

Autosomal recessive Robinow syndrome

1990 • 47 citations

Richner-Hanhart syndrome (tyrosinaemia-II) (report of four cases without ocular involvement)

1981 • 47 citations

Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome.

1988 • 44 citations

Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance

1989 • 44 citations

New autosomal dominant syndrome resembling craniofrontonasal dysplasia

1987 • 44 citations

Spondyloepiphyseal dysplasia tarda with progressive arthropathy.

1984 • 42 citations

Genetic diseases in Lebanon

1980 • 41 citations

Chondrodysplasia punctata, tibia‐metacarpal (MT) type

1990 • 41 citations

Primary hypogonadism and partial alopecia in three sibs with Müllerian hypoplasia in the affected females

1985 • 41 citations

Further delineation of Costello syndrome

1993 • 40 citations

Consanguineous marriage among rural Arabs in Israel.

1984 • 40 citations

Haemoglobinopathies, Thalassaemias and Enzymopathies in Saudi Arabia: The Present Status

1987 • 39 citations

Congenital chloride diarrhoea in Kuwaiti children

1989 • 39 citations

Familial hemophagocytic lymphohistiocytosis (FHLH) in Israel. I. Description of 11 patients of Iranian—Iraqi origin and review of the literature

1984 • 38 citations

Diagnostic Recognition of Genetic Disease.

1988 • 36 citations

Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes

1989 • 36 citations

The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review.

1993 • 36 citations

Cousin marriages in Beirut, Lebanon: is the Pattern Changing?

1984 • 34 citations

New Perspectives in Clinical Microbiology

1979 • 34 citations

Autosomal recessive Silver-Russell syndrome

1992 • 32 citations

Autosomal recessive nonsyndromal microcephaly with normal intelligence

1987 • 32 citations

Renal Tubular Acidosis and Osteopetrosis in Siblings

1981 • 32 citations

New autosomal recessive faciodigitogenital syndrome.

1988 • 28 citations

Familial uterine hernia syndrome: Report of an Arab family with four affected males

1989 • 27 citations

Acrodermatitis Enteropathica

1975 • 27 citations

Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association.

1988 • 26 citations

Familial paroxysmal polyserositis. Clinical and laboratory findings in 120 cases.

1973 • 26 citations

Phenotypic variability in Meckel–Gruber syndrome

1990 • 25 citations

Laurence-Moon-Bardet-Biedl Syndrome in Israel

1970 • 25 citations

Phenylketonuria in Kuwait and Arab countries

1987 • 25 citations

Familial Continual Skin Peeling

1983 • 23 citations

Prevalence of congenital adrenal hyperplasia in Kuwait

1990 • 22 citations

Urofacial syndrome associated with hydrocephalus due to aqueductal stenosis

1991 • 22 citations

Aminoacidopathies: A review of 3 years experience of investigations in a Kuwait hospital

1987 • 21 citations

Teebi hypertelorism syndrome (brachycephalofrontonasal dysplasia) in a U.S. Family

1991 • 21 citations

Congenital Erythropoietic Porphyria

1992 • 20 citations

Congenital hypoplastic anemia

1941 • 19 citations

A new autosomal recessive disorder resembling Weaver syndrome

1989 • 18 citations

Nonsyndromal anencephaly: Possible autosomal recessive variant

1986 • 18 citations

Cystic fibrosis in Jordan: a pilot study

1984 • 18 citations

Meckel syndrome in different populations

1984 • 18 citations

Apple peel syndrome in sibs.

1989 • 17 citations

On Business and Medicine

1985 • 17 citations

Autosomal recessive ataxia, slow eye movements, dementia and extrapyramidal disturbances

1990 • 17 citations

Hypoplastic tibiae with postaxial polysyndactyly: a new dominant syndrome?

1987 • 16 citations

Familial Jejunal Atresia with ‘Apple-Peel’ Variant¹

1981 • 16 citations

Intrafamilial phenotypic variability in citrullinaemia: Report of a family

1988 • 15 citations

Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage

1989 • 14 citations

Childhood muscular dystrophy: an African review

1985 • 14 citations

Autosomal recessive osteopetrosis in Arab children

1994 • 14 citations

Hereditary xanthinuria with severe urolithiasis occurring in infancy as renal tubular acidosis and hypercalciuria

1989 • 14 citations

Ehlers‐Danlos syndrome: a new oculo‐scoliotic type with associated polyneuropathy?

1989 • 14 citations

LAURENCE-MOON-BIEDL SYNDROME IN AN ARAB BOY: FAMILIAL INCIDENCE

1956 • 13 citations

Autosomally inherited recessive spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs

1986 • 13 citations

Cystic fibrosis and Helicobacter pylori gastritis, megaloblastic anaemia, subnormal mentality and minor anomalies in two siblings: a new syndrome?

1991 • 13 citations

Brachmann-de Lange syndrome in sibs.

1987 • 13 citations

Hypertelorism, proptosis, ptosis, polysyndactyly, hypospadias and normal height in 3 sibs: A new syndrome?

1988 • 13 citations

The Schwartz-Jampel syndrome

1993 • 13 citations

A family with spondyloepimetaphyseal dwarfism: a 'new' dysplasia or Kniest disease with autosomal recessive inheritance?

1987 • 13 citations

Correspondence

1988 • 12 citations

Familial spinocerebellar degeneration with corneal dystrophy

1985 • 12 citations

Osteopetrosis in Saudi children: a report of 10 cases

1988 • 12 citations

Macrosomia, microphthalmia, ± cleft palate and early infant death: a new autosomal recessive syndrome

1989 • 10 citations

Autosomal recessive inheritance of a syndrome of hypertelorism, hypospadias, and tetralogy of Fallot?

1990 • 10 citations

229 Congenital Chloride Diarrhea

2012 • 10 citations

Autosomal recessive epidermolytic palmoplantar keratoderma.

1990 • 9 citations

Multiple pterygium syndrome in five Arab sibs.

1987 • 8 citations

Trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia in sibs

1991 • 8 citations

Severe short-limb dwarfism resembling Grebe chondrodysplasia

1986 • 8 citations

Hypogonadotropic hypogonadism, mental retardation, obesity and minor skeletal abnomalities: Another new autosomal recessive syndrome from the middle east

1986 • 7 citations

Autosomal recessive ?uncomplicated? profound childhood deafness in an arabic family with high consanguinity

1981 • 7 citations

Two brothers with heart defects and limb shortening: case reports and review.

1990 • 7 citations

Late diagnosis of phenylketonuria in a bedouin mother

1992 • 7 citations

Congenital Hypothyroidism

2017 • 6 citations

Syndromal and Nonsyndromal Cleft Lip with or without Cleft Palate in Kuwait

1989 • 6 citations

Frequent relapser minimal change nephrosis: An unrecognized X-linked disorder?

1989 • 6 citations

Monozygotic Twins Concordant for Bardet-Biedl Syndrome and Benign Acanthosis nigricans

1989 • 5 citations

Congenital Hypothyroidism in Kuwait

1989 • 5 citations

Macrosomia, Microphthalmia, and Early Rapid or Sudden Infant Death: A New Syndrome?

1989 • 4 citations

Siblings with a progressive neurodegenerative condition associated with basal ganglia calcifications, retinitis pigmentosa and decreased levels of fucosidase — a new presentation?

1987 • 4 citations

Macrosomia, microphthalmia, and early rapid or sudden infant death: a new syndrome?

1989 • 3 citations

Abortion and Islam.

1972 • 3 citations

Fatal Fulminant Hepatitis in Wilson's Disease: Report of Two Cases

1989 • 2 citations

Central pulverulent (Coppock) cataracts: A sibship of two Arab females with full-cousin normal parents

1991 • 2 citations

[Hallermann-Streiff syndrome].

1989 • 2 citations

Clustering of Major Chromosomal Abnormalities among Unselected Sterile Men in Kuwait

1989 • 1 citations

Intrafamilial Variability of the Syndrome of Renal Tubular Acidosis and Sensorineural Deafness

1990 • 1 citations

Congenital hepatic fibrosis without renal involvement.

1988 • 1 citations