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	1.	Rapid detection of polymorphisms in exons 10, 11 and 12 of the low density lipoprotein receptor gene (LDLR) and their use in a clinical genetic diagnostic setting. [electronic resource] by Heath, K E Humphries, S E Producer: 19990618 In: Clinical genetics vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor gene. [electronic resource] by Heath, K E Day, I N Humphries, S E Producer: 20000516 In: Journal of medical genetics vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia. [electronic resource] by Heath, K E Gudnason, V Humphries, S E Seed, M Producer: 19990528 In: Atherosclerosis vol. 143 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: update, new features and mutation analysis. [electronic resource] by Heath, K E Gahan, M Whittall, R A Humphries, S E Producer: 20010301 In: Atherosclerosis vol. 154 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom. [electronic resource] by Heath, K E Humphries, S E Middleton-Price, H Boxer, M Producer: 20010705 In: European journal of human genetics : EJHG vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	I705 variant in the low denisty lipoprotein receptor gene has no effect on plasma cholesterol levels. [electronic resource] by Heath, K E Whittal, R A Miller, G J Humphries, S Producer: 20001116 In: Journal of medical genetics vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	A non-pathogenic pseudoautosomal region 1 copy number variant downstream of SHOX. [electronic resource] by Benito-Sanz, S Aragones, A Gracia, R Campos-Barros, A Heath, K E Producer: 20110830 In: American journal of medical genetics. Part A vol. 155A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1. [electronic resource] by Martignetti, J A Heath, K E Harris, J Bizzaro, N Savoia, A Balduini, C L Desnick, R J Producer: 20000531 In: American journal of human genetics vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients. [electronic resource] by Romanelli, V Belinchón, A Campos-Barros, A Heath, K E García-Miñaur, S Martínez-Glez, V Palomo, R Mercado, G Gracia, R Lapunzina, P Producer: 20090930 In: Placenta vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22-24). [electronic resource] by Heath, K E Luong, L A Leonard, J V Chester, A Shoulders, C C Scott, J Middleton-Price, H R Humphries, S E Talmud, P J Producer: 19980312 In: Prenatal diagnosis vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Copy number variants of Ras/MAPK pathway genes in patients with isolated cryptorchidism. [electronic resource] by Rodríguez, F Vallejos, C Giraudo, F Unanue, N Hernández, M I Godoy, P Célis, S Martín-Arenas, R Palomares-Bralo, M Heath, K E López, M T Cassorla, F Producer: 20180712 In: Andrology vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia? [electronic resource] by Tornero, C Navarro-Compán, V Tenorio, J A García-Carazo, S Buño, A Monjo, I Plasencia-Rodriguez, C Iturzaeta, J M Lapunzina, P Heath, K E Balsa, A Aguado, P Producer: 20210618 In: Orphanet journal of rare diseases vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	KLF6, a candidate tumor suppressor gene mutated in prostate cancer. [electronic resource] by Narla, G Heath, K E Reeves, H L Li, D Giono, L E Kimmelman, A C Glucksman, M J Narla, J Eng, F J Chan, A M Ferrari, A C Martignetti, J A Friedman, S L Producer: 20020226 In: Science (New York, N.Y.) vol. 294 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS). [electronic resource] by Benito-Sanz, S Barroso, E Heine-Suñer, D Hisado-Oliva, A Romanelli, V Rosell, J Aragones, A Caimari, M Argente, J Ross, J L Zinn, A R Gracia, R Lapunzina, P Campos-Barros, A Heath, K E Producer: 20110321 In: The Journal of clinical endocrinology and metabolism vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Quantitative trait loci for cellular defects in glucose and fatty acid metabolism in hypertensive rats. [electronic resource] by Aitman, T J Gotoda, T Evans, A L Imrie, H Heath, K E Trembling, P M Truman, H Wallace, C A Rahman, A Doré, C Flint, J Kren, V Zidek, V Kurtz, T W Pravenec, M Scott, J Producer: 19970618 In: Nature genetics vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. [electronic resource] by Barraza-García, J Rivera-Pedroza, C I Hisado-Oliva, A Belinchón-Martínez, A Sentchordi-Montané, L Duncan, E L Clark, G R Del Pozo, A Ibáñez-Garikano, K Offiah, A Prieto-Matos, P Cormier-Daire, V Heath, K E Producer: 20180316 In: Clinical genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. [electronic resource] by Heath, K E Campos-Barros, A Toren, A Rozenfeld-Granot, G Carlsson, L E Savige, J Denison, J C Gregory, M C White, J G Barker, D F Greinacher, A Epstein, C J Glucksman, M J Martignetti, J A Producer: 20011207 In: American journal of human genetics vol. 69 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. [electronic resource] by Seri, M Cusano, R Gangarossa, S Caridi, G Bordo, D Lo Nigro, C Ghiggeri, G M Ravazzolo, R Savino, M Del Vecchio, M d'Apolito, M Iolascon, A Zelante, L L Savoia, A Balduini, C L Noris, P Magrini, U Belletti, S Heath, K E Babcock, M Glucksman, M J Aliprandis, E Bizzaro, N Desnick, R J Martignetti, J A Producer: 20001030 In: Nature genetics vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)