Results 111 to 120 of about 632 (150)

Ichthyosis Uteri Associated with Endometrial Adenocarcinoma: A Case Report. [PDF]

J Clin Diagn Res, 2017
Bhardwaj N, Diwaker P, Gogoi P, Wadhwa N, Mishra K.   +4 more
europepmc   +1 more source

Harlequin fetus born from Consanguinity: A deleterious case report. [PDF]

Pak J Med Sci, 2019
Devnani J, Kumari U, Zil-E-Rubab.
europepmc   +1 more source

Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population. [PDF]

Sci Rep
Al-Hedaithy A, Alghamdi F, Almomen M, Amer F, Al Dossari S, Noreen Baig D, Bashir S.   +6 more
europepmc   +1 more source

Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism. [PDF]

Mol Med
Shaw NC, Harrison S, Chen K, Forbes CA, Kuzminski E, Hedges M, Farley KO, Ward M, Loughman L, Poulton C, Baynam G, Lassmann T, Fear VS.   +12 more
europepmc   +1 more source

KID KERATİTİS ICTHYOSİS DEAFNESS SENDROMLU COCUKLARDA KOKLEARİMPLANTASYON İKİ OLGUNUN SONUÇLARI

, 2015
İNCESULU, ŞAZİYE ARMAĞAN, GÜMÜŞ, BİRGÜL   +1 more
core  

Review of Liquid Vitamin A and E Formulations in Veterinary and Livestock Production: Applications and Perspectives. [PDF]

Vet Sci
Shastak Y, Pelletier W.
europepmc   +1 more source

Pet Wellness and Vitamin A: A Narrative Overview. [PDF]

Animals (Basel)
Shastak Y, Pelletier W.
europepmc   +1 more source

Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome. [PDF]

Hum Genet
Soliman NA, Elmonem MA, El-Sayed AF, Ramadan E, Badr AM, Atia FM, Helmy R, Amer MO, El-Raouf AA, El-Garhy FM, Abdel-Haseb OM, Hassan TM, Farouk YK, El-Hosseiny A, Bakry U, Ali A, Saleeb S, Ghanim TA, Albarbary M, Elmahy A, Elnagdy T, Ragheb A, Hassan WA, Moustafa A, Amer K.   +24 more
europepmc   +1 more source

The evolving spectrum of complex inherited neuropathies. [PDF]

Curr Opin Neurol
Rossor AM, Haddad S, Reilly MM.
europepmc   +1 more source

Keratitis-Icthyosis-Deafness (KID) Syndrome, case report

Nasza Dermatologia Online, 2017
openaire   +1 more source