1. Beyond the Pale. Folklore, family and the mystery of our hidden genes by Emily Urquhart. Harper collins, Canada. ISBN: 9780062389169/10: 0062389165, 288 p. (16th June 2015) Authors: Nowaczyk, Malgorzata J.M. Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2375 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Beyond the Pale. Folklore, family and the mystery of our hidden genes by Emily Urquhart. Harper collins, Canada. ISBN: 9780062389169/10: 0062389165, 288 p. (16th June 2015) Authors: Nowaczyk, Malgorzata J.M. Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2375 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Issue 1 (26th October 2019) Authors: Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic‐Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Cl... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Partial monosomy 1q43 and partial trisomy 20q13.2: a case report. Issue 3 (July 2016) Authors: Ho, Boey S.; McCready, Elizabeth; Nowaczyk, Malgorzata J.M. Journal: Clinical dysmorphology Issue: Volume 25:Issue 3(2016:Jul.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Prenatal and Pathologic Features of Aorto-Left Ventricular Tunnel Causing Fetal Hydrops and Intrauterine Demise. (March 2013) Authors: Terry, Jefferson; Tapas, Mondal; Nowaczyk, Malgorzata J.M. Journal: Pediatric and developmental pathology Issue: Volume 16:Number 2(2013) Page Start: 97 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. Issue 8 (27th June 2013) Authors: Curry, Cynthia J.; Rosenfeld, Jill A.; Grant, Erica; Gripp, Karen W.; Anderson, Carol; Aylsworth, Arthur S.; Saad, Taha Ben; Chizhikov, Victor V.; Dybose, Giedre; Fagerberg, Christina; Falco, Michelle; Fels, Christina; Fichera, Marco; Graakjaer, Jesper; Greco, Donatella; Hair, Jennifer; Hopkins, ... Journal: American journal of medical genetics Issue: Volume 161:Issue 8(2013:Aug.) Page Start: 1833 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature. Issue 5 (25th March 2013) Authors: Abdelgadir, Dalal; Nowaczyk, Malgorzata J.M.; Li, Chumei Journal: American journal of medical genetics Issue: Volume 161:Issue 5(2013:May) Page Start: 1126 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗