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Showing page 1 of results 1 - 10 of about 52 matches for "naville-d"

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A novel de novo heterozygous mutation in FGFR1 is associated with Hartsfield syndrome
Rathi Prasad; Carole Brewer; Christine P Burren
http://www.endocrine-abstracts.org/ea/0036/ea0036P71.htm
Published: 2014-10-14

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14 hit(s)
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Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene
Judit Toke; Gábor Czirják; Attila Patócs; Balázs Enyedi; Péter Gergics; Violetta Csákváry; P&
http://www.endocrine-abstracts.org/ea/0014/ea0014p497.htm
Published: 2007-04-28

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12 hit(s)
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An atypical case of bone fragility and dysmorphism with an unusual and novel de novo COL1A1 mutation
Mars Skae; Frank Rauch; Zulf Mughal; Jo Sims; Naomi Davis; B Scott; Paul Arundel; Emma Hobson
http://www.bone-abstracts.org/ba/0004/ba0004p179.htm
Published: 2015-06-09

32% match
2 hit(s)
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10.3252/pso.eu.55ESPE.2016

http://abstracts.eurospe.org//hrp/0086/eposters/hrp0086p2-p320_eposter.pdf
Published:

32% match
2 hit(s)
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10.3252/pso.eu.55ESPE.2016

http://abstracts.eurospe.org/hrp/0086/eposters/hrp0086p2-p320_eposter.pdf
Published:

11% match
4 hit(s)
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10.3252/pso.eu.55ESPE.2016

http://abstracts.eurospe.org//hrp/0086/eposters/hrp0086p2-p838_eposter.pdf
Published:

11% match
4 hit(s)
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10.3252/pso.eu.55ESPE.2016

http://abstracts.eurospe.org/hrp/0086/eposters/hrp0086p2-p838_eposter.pdf
Published:

11% match
4 hit(s)
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Pseudohypoparathyroidism Type 1A Due to Novel GNAS Mutation
Yael Levy-Shraga; Noah Gruber; Kineret Mazor-Aronovitch; Dalit Modan-Moses; Orit Pinhas-Hamiel
http://abstracts.eurospe.org/hrp/0082/hrp0082p2-d1-289.htm
Published: 2014-08-28

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6 hit(s)
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Familial Glucocorticoid Deficiency type 2 is associated with mutations in a novel gene encoding a small single transmembrane domain protein
LA Metherell; JP Chapple; S Cooray; C Becker; M Begeot; D Naville; P Nurnberg; A Huebner; ME Cheetham; AJL Clark
http://www.endocrine-abstracts.org/ea/0008/ea0008p83.htm
Published: 2004-11-01

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6 hit(s)
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Identification of a defective gene in Familial Glucocorticoid Deficiency type 2 as a ACTH receptor accessory factor responsible for cell surface trafficking
L Metherell; J Chapple; S Cooray; D Naville; M Begeot; A Huebner; M Cheetham; A Clark
http://www.endocrine-abstracts.org/ea/0009/ea0009oc26.htm
Published: 2005-03-01

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