Autosomal recessive inheritance : An updated reviewMENSINK, Kara A; HAND, Jennifer L.Pediatric dermatology. 2006, Vol 23, Num 4, pp 404-409, issn 0736-8046, 6 p.Article

Disturbances in endocannabinoid metabolism causes autosomal recessive neurodegenerationMETZLER, M.Clinical genetics. 2011, Vol 79, Num 3, pp 221-222, issn 0009-9163, 2 p.Article

Peripapillary Retinal Nerve Fiber Layer Thinning in Patients with Autosomal Recessive Cone-Rod DystrophyPASADHIKA, Sirichai; FISHMAN, Gerald A; ALLIKMETS, Rando et al.American journal of ophthalmology. 2009, Vol 148, Num 2, pp 260-265, issn 0002-9394, 6 p.Article

Evidence for autosomal recessive inheritance of progeria (Hutchinson Gilford)TREVAS MACIEL, A.American journal of medical genetics. 1988, Vol 31, Num 3, pp 483-487, issn 0148-7299Article

Autosomal dominant inheritance of small kidneysKAPLAN, B. S; MILNER, L. S; JEQUIER, S et al.American journal of medical genetics. 1989, Vol 32, Num 1, pp 120-126, issn 0148-7299, 7 p.Article

Autosomal dominant hypoparathyroidism with intracranial calcification outside the basal gangliaMCLEOD, D. R; HANLEY, D. A; MCARTHUR, R. G et al.American journal of medical genetics. 1989, Vol 32, Num 1, pp 32-35, issn 0148-7299, 4 p.Article

Autosomal inheritance of sideroblastic anaemiaAMOS, R. J; MILLER, A. L. C; AMESS, J. A. L et al.Clinical and laboratory haematology. 1988, Vol 10, Num 3, pp 347-353, issn 0141-9854Article

Autosomal recessive inheritance of Nager acrofacial dysostosisCHEMKE, J; MOGILNER, B. M; BEN-ITZHAK, I et al.Journal of medical genetics. 1988, Vol 25, Num 4, pp 230-232, issn 0022-2593Article

Mutations in EXPH5 result in autosomal recessive inherited skin fragilityLIU, L; MELLERIO, J. E; MARTINEZ, A. E et al.British journal of dermatology (1951). 2014, Vol 170, Num 1, pp 196-199, issn 0007-0963, 4 p.Article

Evidence for Autosomal Dominant Inheritance of Ablepharon―Macrostomia SyndromeROHENA, Luis; KUEHN, Devon; MARCHEGIANI, Shannon et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 4, pp 850-854, issn 1552-4825, 5 p.Article

Autosomal dominant precalcaneal congenital fibrolipomatous hamartomaMEYER, Peter; SOENNICHSEN, Karsten; BUCHENAU, Wolfgang et al.Pediatric dermatology. 2005, Vol 22, Num 4, pp 355-356, issn 0736-8046, 2 p.Article

Hypercoagulability in a patient with Marfan syndromeHUMPHRIES, J. E; STOUFFER, G. A; KELLY, T. E et al.Journal of medical genetics. 1991, Vol 28, Num 5, pp 349-351, issn 0022-2593Article

Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genesNOUSBECK, J; SARIG, O; MAGAL, L et al.British journal of dermatology (1951). 2014, Vol 171, Num 6, pp 1521-1524, issn 0007-0963, 4 p.Article

Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial SyndromeJUNFENG PANG; SHU ZHANG; XIONG, Wen-Cheng et al.American journal of human genetics. 2010, Vol 86, Num 6, pp 957-962, issn 0002-9297, 6 p.Article

Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1RIEPE, Felix G; FINKELDEI, Johannes; FEJES-TOTH, Geza et al.The Journal of clinical endocrinology and metabolism. 2006, Vol 91, Num 11, pp 4552-4561, issn 0021-972X, 10 p.Article

Eye abnormalities in Fryns syndromePIERSON, Diane M; TABOADA, Eugenio; BUTLER, Merlin G et al.American journal of medical genetics. 2004, Vol 125A, Num 3, pp 273-277, issn 0148-7299, 5 p.Article

Autosomal dominant flat umbilicusLEUNG, Alexander K. C; MCLEOD, D. Ross.American journal of medical genetics. 2004, Vol 131A, Num 3, pp 307-309, issn 0148-7299, 3 p.Article

Autosomal dominant and sporadic radio-ulnar synostosisRIZZO, R; PAVONE, V; CORSELLO, G et al.American journal of medical genetics. 1997, Vol 68, Num 2, pp 127-134, issn 0148-7299Article

Heterotaxia syndrome and autosomal dominant inheritanceALONSO, S; PIERPONT, M. E; BOUVAGNET, P et al.American journal of medical genetics. 1995, Vol 56, Num 1, pp 12-15, issn 0148-7299Article

Familial congenital brachial palsyMOLLICA, F; LI VOLTI, S; GRASSO, A et al.American journal of medical genetics. 1991, Vol 41, Num 3, pp 322-324, issn 0148-7299Article

Thromboxane responsiveness of dog platelets is inherited as an autosomal recessive traitJOHNSON, G. J; LEIS, L. A; KING, R. A et al.Thrombosis and haemostasis. 1991, Vol 65, Num 5, pp 578-580, issn 0340-6245Article

Autosomal dominant antecubital pterygium: syndromic status substantiatedWALLIS, C. E; SHUN-SHIN, M; BEIGHTON, P. H et al.Clinical genetics. 1988, Vol 34, Num 1, pp 64-69, issn 0009-9163Article

Heterogeneity of autosomal dominant osteopetrosisANDERSEN, P. E. JR; BOLLERSLEV, J.Radiology. 1987, Vol 164, Num 1, pp 223-225, issn 0033-8419Article

Impotence induced by a single gene mutationCHUBB, C; HENRY, L.Biology of reproduction. 1987, Vol 36, Num 3, pp 557-561, issn 0006-3363Article

Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1WELZEL, Maik; AKIN, Leyla; YALINBAS SENSES, Emine Esin et al.European journal of endocrinology. 2013, Vol 168, Num 5, pp 707-715, issn 0804-4643, 9 p.Article