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	1.	Deciphering the cis-regulatory landscape of SOX9 implicated in craniofacial development and isolated Pierre Robin sequence. [electronic resource] by De Baere, Elfride Producer: 20150330 In: Human mutation vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Heterozygous coding ZNF469 variants enriched in New Zealand patients with isolated keratoconus. [electronic resource] by De Baere, Elfride Producer: 20141105 In: Investigative ophthalmology & visual science vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	FOXL2 impairment in human disease. [electronic resource] by Verdin, Hannah De Baere, Elfride Producer: 20120622 In: Hormone research in paediatrics vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	FOXL2 mutations and genomic rearrangements in BPES. [electronic resource] by Beysen, Diane De Paepe, Anne De Baere, Elfride Producer: 20090410 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	The transcription factor FOXL2 in ovarian function and dysfunction. [electronic resource] by De Baere, Elfride Fellous, Marc Veitia, Reiner A Producer: 20160422 In: Folia histochemica et cytobiologica vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Clinical utility gene card for: Axenfeld-Rieger syndrome. [electronic resource] by Weisschuh, Nicole De Baere, Elfride Wissinger, Bernd Tümer, Zeynep Producer: 20110531 In: European journal of human genetics : EJHG vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Compositional biases and polyalanine runs in humans. [electronic resource] by Cocquet, Julie De Baere, Elfride Caburet, Sandrine Veitia, Reiner A Producer: 20041005 In: Genetics vol. 165 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	CEP290, a gene with many faces: mutation overview and presentation of CEP290base. [electronic resource] by Coppieters, Frauke Lefever, Steve Leroy, Bart P De Baere, Elfride Producer: 20110128 In: Human mutation vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Mother and daughter became father and son: a case report. [electronic resource] by Sajevets, Tatjana Verroken, Charlotte Heylens, Gunter De Baere, Elfride T'Sjoen, Guy Producer: 20160601 In: Asian journal of andrology vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Rieger syndrome is not associated with PAX6 deletion: a correction to Acta Ophthalmol Scand 2001: 79: 201-203. [electronic resource] by Riise, Ruth D'haene, Barbara De Baere, Elfride Grønskov, Karen Brøndum-Nielsen, Karen Publication details: Acta ophthalmologica Nov 2009 In: Acta ophthalmologica vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations. [electronic resource] by Cassiman, Catherine Spileers, Werner De Baere, Elfride de Ravel, Thomy Casteels, Ingele Producer: 20130821 In: Ophthalmic genetics vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	The human FOXL2 mutation database. [electronic resource] by Beysen, Diane Vandesompele, Jo Messiaen, Ludwine De Paepe, Anne De Baere, Elfride Producer: 20050310 In: Human mutation vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). [electronic resource] by Gulati, Reena Verdin, Hannah Halanaik, Dhanapathi Bhat, B Vishnu De Baere, Elfride Producer: 20150612 In: European journal of medical genetics vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome. [electronic resource] by Nallathambi, Jeyabalan Neethirajan, Guruswamy Usha, Kim Jitendra, Jethani De Baere, Elfride Sundaresan, Periasamy Producer: 20071210 In: Journal of genetics vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy. [electronic resource] by Désir, Julie Coppieters, Frauke Van Regemorter, Nicole De Baere, Elfride Abramowicz, Marc Cordonnier, Monique Producer: 20121113 In: Molecular vision vol. 18 Availability: No items available. Save to lists Add to cart (remove)
	16.	Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay. [electronic resource] by Zahanova, Stacy Meaney, Brandon Łabieniec, Beata Verdin, Hannah De Baere, Elfride Nowaczyk, Małgorzata J M Producer: 20120601 In: Clinical dysmorphology vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II. [electronic resource] by Haghighi, Alireza Verdin, Hannah Haghighi-Kakhki, Hamidreza Piri, Niloofar Gohari, Nasrollah Saleh De Baere, Elfride Producer: 20120717 In: Molecular vision vol. 18 Availability: No items available. Save to lists Add to cart (remove)
	18.	A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family. [electronic resource] by Decaestecker, Karel Philibert, Pascal De Baere, Elfride Hoebeke, Piet Kaufman, Jean-Marc Sultan, Charles T'Sjoen, Guy Producer: 20080613 In: Fertility and sterility vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function. [electronic resource] by Cima, Ivan Brecelj, Jelka Sustar, Maja Coppieters, Frauke Leroy, Bart P De Baere, Elfride Hawlina, Marko Producer: 20130122 In: Documenta ophthalmologica. Advances in ophthalmology vol. 125 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction. [electronic resource] by Nallathambi, Jeyabalan Moumné, Lara De Baere, Elfride Beysen, Diane Usha, Kim Sundaresan, Periasamy Veitia, Reiner A Producer: 20070928 In: Human genetics vol. 121 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 78 results.