Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by M J Leal
Hirschsprung Disease Associated With Polydactyly, Unilateral Renal Agenesis, Hypertelorism, and Congenital Deafness: A New Autosomal Recessive Syndrome.
Journal of Medical Genetics
Genetics
Related publications
A New Syndrome of Autosomal Recessive Nephropathy, Deafness, and Hyperparathyroidism.
Journal of Medical Genetics
Genetics
New Autosomal Recessive Faciodigitogenital Syndrome.
Journal of Medical Genetics
Genetics
Congenital Non-Syndromal Autosomal Recessive Deafness in Bengkala, an Isolated Balinese Village.
Journal of Medical Genetics
Genetics
A Case Report on Uterus Didelphys With Unilateral Renal Agenesis and Crouzon Syndrome
International Journal of Reproduction, Contraception, Obstetrics and Gynecology
Autosomal Recessive Hyperimmunoglobulin E Syndrome: A Distinct Disease Entity
Pediatrics
Child Health
Pediatrics
Perinatology
Hypertelorism-Preauricular Sinus-Punctual Pits-Deafness Syndrome
Novel Mutations of TMPRSS3 in Four DFNB8/B10 Families Segregating Congenital Autosomal Recessive Deafness
Journal of Medical Genetics
Genetics
Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia
A Region of Homozygosity Within 22q11.2 Associated With Congenital Heart Disease: Recessive DiGeorge/velocardiofacial Syndrome?
Journal of Medical Genetics
Genetics
