Published in Eur J Pediatr on February 01, 1991
Autosomal recessive disorders among Arabs: an overview from Kuwait. J Med Genet (1994) 1.26
Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. J Pediatr (1989) 2.25
Hypogonadotropic hypogonadism, mental retardation, obesity and minor skeletal abnormalities: another new autosomal recessive syndrome from the Middle East. Am J Med Genet (1986) 1.92
High incidence of Bardet Biedl syndrome among the Bedouin. Clin Genet (1989) 1.91
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Pediatrics (1997) 1.86
Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome. J Med Genet (1985) 1.84
Consanguinity among the Kuwaiti population. Clin Genet (1985) 1.72
A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar. Acta Paediatr (2003) 1.60
Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population. Clin Genet (1988) 1.59
New syndrome?: MCA/MR syndrome with multiple circumferential skin creases. Am J Med Genet (1996) 1.53
The antibacterial action of honey. An in vitro study. S Afr Med J (1985) 1.51
A new autosomal recessive disorder resembling Weaver syndrome. Am J Med Genet (1989) 1.51
Colonic perforation after exchange transfusion. Br Med J (1968) 1.50
Pseudo-trisomy 13 syndrome with upper limb shortness and radial hypoplasia. Am J Med Genet (1992) 1.40
Nablus mask-like facial syndrome. Am J Med Genet (2000) 1.39
A boy with the Rett syndrome? Brain Dev (1990) 1.38
Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor. Am J Hum Genet (1999) 1.36
Autosomal recessive nonsyndromal microcephaly with normal intelligence. Am J Med Genet (1987) 1.36
Genetic referrals of Middle Eastern origin in a western city: inbreeding and disease profile. J Med Genet (1996) 1.34
Proceedings: Effect of nebulized salbutamol in infants with wheezy bronchitis. Arch Dis Child (1974) 1.30
Congenital heart defects in Sotos syndrome. Am J Med Genet (1998) 1.23
Maternal varicella infection as a cause of fetal malformations. Lancet (1973) 1.22
The effect of consanguineous marriages on reproductive wastage. Clin Genet (1986) 1.22
Peripheral neuropathy in Cockayne's syndrome. Arch Dis Child (1970) 1.21
Autosomal dominant sneezing disorder provoked by fullness of stomach. J Med Genet (1989) 1.19
Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome). J Med Genet (1994) 1.16
Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs. Clin Exp Rheumatol (2005) 1.14
Nonsyndromal anencephaly: possible autosomal recessive variant. Am J Med Genet (1986) 1.13
Sandrow syndrome of mirror hands and feet and facial abnormalities. Am J Med Genet (1993) 1.08
Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype. J Med Genet (1999) 1.08
Anencephaly: disappearing in Kuwait? Lancet (1984) 1.07
Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome). Clin Genet (2002) 1.04
X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype. Clin Genet (1989) 1.03
Late infantile metachromatic leucodystrophy. Effect of low vitamin A diet. Arch Dis Child (1971) 1.02
A multicenter therapeutic study of 1100 children with brucellosis. Pediatr Infect Dis J (1989) 1.02
Poland sequence with dextrocardia: which comes first? Am J Med Genet (1997) 1.01
Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. Clin Genet (2008) 1.01
Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs. J Med Genet (1986) 0.98
Silent brain infarcts are rare in Kuwaiti children with sickle cell disease and high Hb F. Am J Hematol (2002) 0.98
Brachmann-de Lange syndrome in sibs. J Med Genet (1987) 0.97
Vitamin-D-deficiency rickets in Kuwait: the prevalence of a preventable disease. Ann Trop Paediatr (1989) 0.97
Limb/pelvis/uterus-hypoplasia/aplasia syndrome. J Med Genet (1993) 0.97
Inherited duplication, dup (8) (p23.1p23.1) pat, in a father and daughter with congenital heart defects. Am J Med Genet (2001) 0.96
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. Clin Genet (2007) 0.96
Treatment of neurocysticercosis: is praziquantel the new hope? Lancet (1989) 0.95
Complex translocation involving chromosomes Y, 1, and 3 resulting in deletion of segment 3q23----q25. J Med Genet (1986) 0.95
Spinal muscular atrophy in childhood. Two clues to clinical diagnosis. Arch Dis Child (1973) 0.95
Autosomal dominant idiopathic scoliosis? Am J Med Genet (1995) 0.94
Multiple pterygium syndrome in five Arab sibs. Ann Genet (1987) 0.93
Motor nerve conduction velocity in spinal muscular atrophy of childhood. Arch Dis Child (1976) 0.93
Quantitative electromyography: a new analogue technique for detecting changes in action potential duration. J Neurol Neurosurg Psychiatry (1972) 0.93
Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. Can Assoc Radiol J (1999) 0.92
Primary hypogonadism and partial alopecia in three sibs with müllerian hypoplasia in the affected females. Am J Med Genet (1985) 0.92
Honey in the treatment of infantile gastroenteritis. Br Med J (Clin Res Ed) (1985) 0.91
Hand and ECG tremor in spinal muscular atrophy. Arch Dis Child (1983) 0.90
Autosomal recessive nonsyndromal hydrocephalus. Am J Med Genet (1988) 0.90
Postnatal maturation of peripheral nerves in preterm and full-term infants. J Pediatr (1971) 0.90
Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome. J Med Genet (2000) 0.90
Diagnostic needle muscle biopsy. A practical and reliable alternative to open biopsy. Arch Dis Child (1984) 0.89
A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13. Clin Genet (2005) 0.88
Rett syndrome: genetic clues based on mitochondrial changes in muscle. Am J Med Genet (1989) 0.87
Correlation of single fibre EMG and muscle histochrmistry using an open biopsy recording technique. J Neurol Sci (1977) 0.86
A comparison of traditional assessment with the objective structured clinical examination (OSCE). S Afr Med J (1985) 0.86
Costello or facio-cutaneous-skeletal syndrome? Am J Med Genet (1993) 0.86
Transverse limb defects associated with aorto-pulmonary vascular abnormalities: vascular disruption sequence or atypical presentation of Adams-Oliver syndrome? Am J Med Genet (2000) 0.85
Meckel syndrome and neural tube defects in Kuwait. J Med Genet (1992) 0.85
Phenylketonuria in Kuwait and Arab countries. Eur J Pediatr (1987) 0.84
Rett syndrome: a mitochondrial disease? J Child Neurol (1990) 0.84
Quantitative electromyography: carrier detection in Duchenne type muscular dystrophy using a new automatic technique. J Neurol Neurosurg Psychiatry (1972) 0.84
Hypoplastic tibiae with postaxial polysyndactyly: a new dominant syndrome? J Med Genet (1987) 0.84
Seventy black epileptics. Cysticercosis, computed tomography and electro-encephalography. S Afr Med J (1987) 0.84
The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23. Clin Genet (2004) 0.83
Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome). Clin Dysmorphol (1994) 0.83
Congenital insensitivity to pain with anhidrosis: lack of eccrine sweat gland innervation confirmed. J Child Neurol (1998) 0.83
What syndrome is this? Chondroectodermal dysplasia--the Ellis-van Creveld syndrome. Pediatr Dermatol (2001) 0.83
Macrosomia, microphthalmia, +/- cleft palate and early infant death: a new autosomal recessive syndrome. Clin Genet (1989) 0.83
The association of cystic fibrosis with homocystinura in two Saudi siblings. Eur J Pediatr (1996) 0.83
Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. Cancer Res (1998) 0.83
Cerebral aneurysms in atrial myxoma: a delayed, rare manifestation. Neurol India (2005) 0.83
Klinefelter's syndrome, mosaic 46,XX/46,XY/47,XXY/48,XXXY/48,XXYY: a case report. Ann Genet (1986) 0.83
Prolonged and secondary fever in childhood bacterial meningitis. Eur J Pediatr (1989) 0.82
Improved neurological outcome in children with chronic renal disease from infancy. Pediatr Nephrol (1994) 0.82
Prevalence of congenital adrenal hyperplasia in Kuwait. Eur J Pediatr (1990) 0.82
Autosomal dominant Russell-Silver syndrome. Am J Med Genet (1996) 0.82
Urofacial syndrome. Am J Med Genet (1989) 0.82
Screening 25 dystrophin gene exons for deletions in Arab children with Duchenne muscular dystrophy. Hum Hered (1998) 0.82
Rotavirus studies in Indian (Asian) South African infants with acute gastro-enteritis: I. Microbiological and epidemiological aspects. Ann Trop Paediatr (1990) 0.82
Predictive value of C-reactive protein in neonatal septicaemia. Ann Trop Paediatr (1986) 0.82
Assessment of gestational age in newborn infants: nerve conduction velocity versus maturity score. Dev Med Child Neurol (1972) 0.81
Peripheral neuropathy in Leigh's encephalomyelopathy. Dev Med Child Neurol (1975) 0.81
Duchenne's muscular dystrophy in six siblings. The case for early diagnosis and neonatal screening. S Afr Med J (1982) 0.81
Auditory brainstem responses (ABR) in children with neurological disorders. Brain Dev (1988) 0.81
Multiple pterygium syndrome: a relatively common disorder among Arabs. J Med Genet (1990) 0.81
Slow nerve conduction velocity in cretins. Arch Dis Child (1971) 0.81
Bartsocas-Papas syndrome in an Arab family with four affected sibs: further characterization. Am J Med Genet (1998) 0.81
The second family with Spahr-type metaphyseal chondrodysplasia: autosomal recessive inheritance confirmed. Clin Genet (1990) 0.80
The value of red cell distribution width in the diagnosis of anaemia in children. Eur J Pediatr (1989) 0.80
Fatal neonatal meningitis and ventriculitis caused by multiresistant Achromobacter xylosoxidans. A case report. S Afr Med J (1989) 0.80