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Is Part Of Human mutation. Volume 40:Issue 2(2019)

1. A novel autosomal recessive GJB2‐associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma. Issue 2 (1st December 2018)

Authors:
Youssefian, Leila; Vahidnezhad, Hassan; Saeidian, Amir Hossein; Mahmoudi, Hamidreza; Karamzadeh, Razieh; Kariminejad, Ariana; Huang, Jianhe; Li, Leping; Jannace, Thomas F.; Fortina, Paolo; Zeinali, Sirous; White, Thomas W.; Uitto, Jouni
Journal:
Human mutation
Issue:
Volume 40:Issue 2(2019)
Page Start:
217
Record Type:
Journal Article
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4. EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome. Issue 2 (29th November 2018)

Authors:
Pathak, Sagar J.; Mueller, James L.; Okamoto, Kevin; Das, Barun; Hertecant, Jozef; Greenhalgh, Lynn; Cole, Trevor; Pinsk, Vered; Yerushalmi, Baruch; Gurkan, Odul E.; Yourshaw, Michael; Hernandez, Erick; Oesterreicher, Sandy; Naik, Sandhia; Sanderson, Ian R.; Axelsson, Irene; Agardh, Daniel; Bolan...
Journal:
Human mutation
Issue:
Volume 40:Issue 2(2019)
Page Start:
142
Record Type:
Journal Article
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5. Evidence of predisposing epimutation in retinoblastoma. Issue 2 (26th November 2018)

Authors:
Gelli, Elisa; Pinto, Anna Maria; Somma, Serena; Imperatore, Valentina; Cannone, Marta G.; Hadjistilianou, Theodora; De Francesco, Sonia; Galimberti, Daniela; Currò, Aurora; Bruttini, Mirella; Mari, Francesca; Renieri, Alessandra; Ariani, Francesca
Journal:
Human mutation
Issue:
Volume 40:Issue 2(2019)
Page Start:
201
Record Type:
Journal Article
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7. In silico and in vivo models for Qatari‐specific classical homocystinuria as basis for development of novel therapies. Issue 2 (23rd November 2018)

Authors:
Ismail, Hesham M.; Krishnamoorthy, Navaneethakrishnan; Al‐Dewik, Nader; Zayed, Hatem; Mohamed, Nura A.; Giacomo, Valeria Di; Gupta, Sapna; Häberle, Johannes; Thöny, Beat; Blom, Henk J.; Kruger, Warren D.; Ben‐Omran, Tawfeg; Nasrallah, Gheyath K.
Journal:
Human mutation
Issue:
Volume 40:Issue 2(2019)
Page Start:
230
Record Type:
Journal Article
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9. Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange‐Nielsen Syndrome and Romano‐Ward Syndrome. Issue 2 (12th December 2018)

Authors:
Faridi, Rabia; Tona, Risa; Brofferio, Alessandra; Hoa, Michael; Olszewski, Rafal; Schrauwen, Isabelle; Assir, Muhammad Z.K.; Bandesha, Akhtar A.; Khan, Asma A.; Rehman, Atteeq U.; Brewer, Carmen; Ahmed, Wasim; Leal, Suzanne M.; Riazuddin, Sheikh; Boyden, Steven E.; Friedman, Thomas B.
Journal:
Human mutation
Issue:
Volume 40:Issue 2(2019)
Page Start:
162
Record Type:
Journal Article
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10. NR5A1 gene variants repress the ovarian‐specific WNT signaling pathway in 46, XX disorders of sex development patients. Issue 2 (30th November 2018)

Authors:
Knarston, Ingrid M.; Robevska, Gorjana; van den Bergen, Jocelyn A; Eggers, Stefanie; Croft, Brittany; Yates, Jason; Hersmus, Remko; Looijenga, Leendert H. J.; Cameron, Fergus J.; Monhike, Klaus; Ayers, Katie L.; Sinclair, Andrew H.
Journal:
Human mutation
Issue:
Volume 40:Issue 2(2019)
Page Start:
207
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

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