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Incidence Evaluation Of Snhl In High Risk Neonates
Arora, Shilpi, Kochhar, L. K.
Published in Indian Journal of Otolaryngology and Head & Neck Surgery (01.10.2003)
Published in Indian Journal of Otolaryngology and Head & Neck Surgery (01.10.2003)
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Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy
RUDNIK-SCHÖNEBORN, S, WIRTH, B, ZERRES, K
Published in American journal of human genetics (01.07.1994)
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Published in American journal of human genetics (01.07.1994)
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Permanent Neonatal Diabetes Caused by Glucokinase Deficiency
Njølstad, Pål R., Sagen, Jørn V., Bjørkhaug, Lise, Odili, Stella, Shehadeh, Naim, Bakry, Doua, Sarici, S. Umit, Alpay, Faruk, Molnes, Janne, Molven, Anders, Søvik, Oddmund, Matschinsky, Franz M.
Published in Diabetes (New York, N.Y.) (01.11.2003)
Published in Diabetes (New York, N.Y.) (01.11.2003)
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Prevalence of p.V37I Variant of GJB2 in Mild or Moderate Hearing Loss in a Pediatric Population and the Interpretation of Its Pathogenicity. e61592
Kim, So Young, Park, Gibeom, Han, Kyu-Hee, Kim, Ahreum, Koo, Ja-Won, Chang, Sun O, Oh, Seung Ha, Park, Woong-Yang, Choi, Byung Yoon
Published in PloS one (01.04.2013)
Published in PloS one (01.04.2013)
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PALMAR DERMATOGLYPHICS IN PATIENTS OF THALASSEMIA MAJOR
Rashida H Andani, Dharati Kubavat, Ojaswini Malukar, Nagar S K, Kanan Uttekar, Bhaskar Patel
Published in National journal of medical research (01.09.2012)
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Published in National journal of medical research (01.09.2012)
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Inheritance of Low Serum Immunoglobulin D
Dunnette, Sandra L., Gleich, Gerald J., Weinshilboum, Richard M.
Published in The Journal of clinical investigation (01.08.1978)
Published in The Journal of clinical investigation (01.08.1978)
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X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia
Halliday, J, Chow, C W, Wallace, D, Danks, D M
Published in Journal of medical genetics (01.02.1986)
Published in Journal of medical genetics (01.02.1986)
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Characterization of apoA- and apoB-containing lipoprotein particles in a variant of familial apoA-I deficiency with planar xanthoma: the metabolic significance of LP-A-II particles
Bekaert, ED, Alaupovic, P, Knight-Gibson, CS, Laux, MJ, Pelachyk, JM, Norum, RA
Published in Journal of lipid research (01.10.1991)
Published in Journal of lipid research (01.10.1991)
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New Approaches to the Detection of Myeloperoxidase Deficiency
Dri, P., Cramer, R., Soranzo, M.R., Comin, A., Miotti, V., Patriarca, P.
Published in Blood (01.08.1982)
Published in Blood (01.08.1982)
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Distal hereditary motor neuropathy (DHMN): a new locus for an autosomal recessive form
Mostacciuolo, ML, Crestanello, E, Boaretto, F, Boscolo, E, Liguori, M, Tessarolo, D, Vettori, A, Vazza, G
Published in Journal of the peripheral nervous system (01.06.2004)
Published in Journal of the peripheral nervous system (01.06.2004)
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