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Publications by S Pozzolo
Limb/Pelvis-Hypoplasia/Aplasia Syndrome (Al-Awadi/Raas-Rothschild Syndrome): Report of Two Italian Sibs and Further Confirmation of Autosomal Recessive Inheritance.
Journal of Medical Genetics
Genetics
Related publications
Van Maldergem Syndrome: Further Characterisation and Evidence for Neuronal Migration Abnormalities and Autosomal Recessive Inheritance
European Journal of Human Genetics
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Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
New Autosomal Recessive Faciodigitogenital Syndrome.
Journal of Medical Genetics
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Autosomal Recessive Distal Osteolysis Syndrome
Hereditary Hypophosphataemic Rickets With Autosomal Recessive Inheritance and Severe Osteosclerosis. A Report of Two Cases
The Journal of Bone and Joint Surgery. British volume
Conotruncal Heart Defect/Microphthalmia Syndrome: Delineation of an Autosomal Recessive Syndrome.
Journal of Medical Genetics
Genetics
A New Syndrome of Autosomal Recessive Nephropathy, Deafness, and Hyperparathyroidism.
Journal of Medical Genetics
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Autosomal Recessive Hyperimmunoglobulin E Syndrome: A Distinct Disease Entity
Pediatrics
Child Health
Pediatrics
Perinatology
Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes
Journal of Medical Genetics
Genetics
