|1|Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome. (25174843)
D'Ambrosio V.... Keymolen K.
|2|Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships. (22858719)
Sund K.L.... Smolarek T.A.
|3|A rare case of respiratory disorders associated with two autosomal recessive diseases and male infertility. (23772318)
Mendeluk G.R.... Palaoro L.A.
|4|A population-based study of autosomal-recessive disease-causing mutations in a founder population. (22981120)
Chong J.X.... Ober C.
|5|Identification of autosomal recessive disease loci using out-bred nuclear families. (22052625)
Carr I.M.... Markham A.F.
|6|Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study. (20637082)
Teeuw M.E.... Ten Kate L.P.
|7|Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes. (21475666)
Ten Kate L.P.... Cornel M.C.
|8|Changing concepts in familial Mediterranean fever: is it possible to have an autosomal-recessive disease with only one mutation? (19479854)
|9|Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family. (16684309)
Bukhari I.A.... Stuhrmann M.
|10|Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. (16642444)
Woods C.G.... Inglehearn C.F.
|11|Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders. (16145690)
|12|Rare etiology of autosomal recessive disease in a child with noncarrier parents. (10915611)
Lebo R.V.... Kronn D.F.
|13|A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria. (11149613)
JAorvinen O.... KAoAoriAoinen H.
|14|Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. (9674902)
Maman E.... Carmi R.
|15|A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity. (9002528)
Hoppe B.... Leumann E.
|16|Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. (8596916)
Campuzano V.... Pandolfo M.
|17|Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. (8808595)
Tan J.... Schachter H.
|18|Autosomal recessive disease. (8333249)
Szwabowska-Orzeszko E.... MichaA8owicz R.
|19|Pseudodominant transmission of an autosomal recessive disease, adenine phosphoribosyltransferase deficiency. (1986109)
Ishidate T.... Kamatani N.
|20|Is juvenile myoclonic epilepsy an autosomal recessive disease? (2115759)
Greenberg D.A.... Janz D.
|21|Juvenile myoclonic epilepsy: an autosomal recessive disease. (2505665)
Panayiotopoulos C.P.... Obeid T.
|22|An expected decrease in the incidence of autosomal recessive disease due to decreasing consanguineous marriages. (3209054)
|23|Tay-Sachs disease and the role of reproductive compensation in the maintenance of ethnic variations in the incidence of autosomal recessive disease. (6465844)
Koeslag J.H.... Schach S.R.
|24|Epidermodysplasia verruciformis. An autosomal recessive disease characterized by viral warts and skin cancer. A model for viral oncogenesis. (212144)
|25|Pyloroduodenal atresia (diaphragm type): an autosomal recessive disease. (704218)
Mishalany H.G.... Der Kaloustian V.M.
|26|Idiopathic haemochromatosis: an autosomal recessive disease. (4838891)
Saddi R.... Feingold J.
|27|The adducted thumbs syndrome. An autosomal recessive disease with arthrogryposis, dysmyelination, craniostenosis, and cleft palate. (5116596)
Christian J.C.... Muller J.
|28|Congenital chloride diarrhea, an autosomal recessive disease. Genetic study of 14 Finnish and 12 other families. (5111762)
Norio R.... Hallman N.