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Items: 6


Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.

Cohen E, Belkacem S, Fedala S, Collot N, Khallouf E, Dastot F, Polak M, Duquesnoy P, Brioude F, Rose S, Viot G, Soleyan A, Carel JC, Sobrier ML, Chanson P, Gatelais F, Heinrichs C, Kaffel N, Coutant R, Savaş Erdeve Ş, Kurnaz E, Aycan Z, Thalassinos C, Lyonnet S, Şıklar Z, Berberoglu M, Brachet C, Amselem S, Legendre M.

Hum Mutat. 2019 Nov;40(11):2033-2043. doi: 10.1002/humu.23847. Epub 2019 Aug 6.


Blood oxytocin concentration positively predicts contagious yawning behavior in children with autism spectrum disorder.

Mariscal MG, Oztan O, Rose SM, Libove RA, Jackson LP, Sumiyoshi RD, Trujillo TH, Carson DS, Phillips JM, Garner JP, Hardan AY, Parker KJ.

Autism Res. 2019 Aug;12(8):1156-1161. doi: 10.1002/aur.2135. Epub 2019 May 27.


A Printable Device for Measuring Clarity and Colour in Lake and Nearshore Waters.

Brewin RJW, Brewin TG, Phillips J, Rose S, Abdulaziz A, Wimmer W, Sathyendranath S, Platt T.

Sensors (Basel). 2019 Feb 22;19(4). pii: E936. doi: 10.3390/s19040936.


Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.

Cohen E, Maghnie M, Collot N, Leger J, Dastot F, Polak M, Rose S, Touraine P, Duquesnoy P, Tauber M, Copin B, Bertrand AM, Brioude F, Larizza D, Edouard T, González Briceño L, Netchine I, Oliver-Petit I, Sobrier ML, Amselem S, Legendre M.

J Clin Endocrinol Metab. 2017 Jan 1;102(1):290-301. doi: 10.1210/jc.2016-3158.


Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.

Mouden C, de Tayrac M, Dubourg C, Rose S, Carré W, Hamdi-Rozé H, Babron MC, Akloul L, Héron-Longe B, Odent S, Dupé V, Giet R, David V.

PLoS One. 2015 Feb 6;10(2):e0117418. doi: 10.1371/journal.pone.0117418. eCollection 2015.


Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism.

Fritez N, Sobrier ML, Iraqi H, Vié-Luton MP, Netchine I, El Annas A, Pantel J, Collot N, Rose S, Piterboth W, Legendre M, Chraibi A, Amselem S, Kadiri A, Hilal L.

Clin Endocrinol (Oxf). 2015 Jun;82(6):876-84. doi: 10.1111/cen.12706. Epub 2015 Feb 6.


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