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Clinical Dysmorphology|December 30, 2009
Amniotic bands in paternal half-siblingsMoira Blyth, Katherine LachlanPediatric Nephrology (Berlin, Germany)|April 30, 2013
Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic diseaseRodney D Gilbert, Priya Sukhtankar, Katherine Lachlan, et al.European Journal of Human Genetics : EJHG|March 24, 2005
Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohortClaire Turner, Katherine Lachlan, Nishani Amerasinghe, et al.Human Genetics|December 24, 2008
Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4)N Simon Thomas, Viv Maloney, Victoria Bryant, et al.Journal of Neurology, Neurosurgery, and Psychiatry|February 27, 2010
Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophySacha Ferdinandusse, Simon Barker, Katherine Lachlan, et al.European Journal of Medical Genetics|October 13, 2012
Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertilityCatherine L Mercer, Katherine Lachlan, Alexandra Karcanias, et al.Journal of Medical Genetics|November 5, 2016
<i>AMMECR1</i>: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosisGaia Andreoletti, Eleanor G Seaby, Jennifer M Dewing, et al.American Journal of Medical Genetics. Part A|December 14, 2019
Amniotic band sequence in paternal half-siblings with vascular Ehlers-Danlos syndromeMary B Callaghan, Rob Hadden, Jon S King, et al.Developmental Medicine and Child Neurology|November 11, 2024
Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disordersThomas W Frazier, Robyn M Busch, Patricia Klaas, et al.Endocrine|December 22, 2022
The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidismSofia Siffo, Mauricio Gomes Pio, Elena Bueno Martínez, et al.Pageof 6