Genetic heterogeneity in Pakistani microcephaly families revisited

Autor: I, Ahmad, S M, Baig, A R, Abdulkareem, M S, Hussain, I, Sur, M R, Toliat, G, Nürnberg, N, Dalibor, A, Moawia, S S, Waseem, M, Asif, H, Nagra, M, Sher, M M A, Khan, I, Hassan, S Ur, Rehman, H, Thiele, J, Altmüller, A A, Noegel, P, Nürnberg

Publikováno v: Clinical genetics. 92(1)

Autosomal recessive primary microcephaly (MCPH) is a rare and heterogeneous genetic disorder characterized by reduced head circumference, low cognitive prowess and, in general, architecturally normal brains. As many as 14 different loci have already

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7be41e8dfb5ee5fc9ffa952d176a8819
https://pubmed.ncbi.nlm.nih.gov/28004384

Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b

Autor: M R, Toliat, F, Erdogan, A, Gewies, R, Fahsold, A, Buske, S, Tinschert, P, Nürnberg

Publikováno v: Electrophoresis. 21(3)

A total of 196 unrelated patients with neurofibromatosis type 1 (NF1) was screened for mutations in exons 4a-c of the NF1 gene by temperature gradient gel electrophoresis (TGGE) of polymerase chain reaction (PCR)-amplified genomic DNA fragments using

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5f67285a26be82f3170ee0beb364ee67
https://pubmed.ncbi.nlm.nih.gov/10726756

Multifunctional Hydrogel Microneedle Patches Modulating Oxi-inflamm-aging for Diabetic Wound Healing.

Autor: Tian S; Department of Orthopedics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, P. R. China., Mei J; Department of Orthopedics, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230001, P. R. China., Zhang L; School of Pharmaceutical Science, Zhengzhou University, Zhengzhou, 450001, P. R. China., Wang S; Department of Orthopedics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, P. R. China., Yuan Y; Department of Orthopedics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, P. R. China., Li J; National Engineering Laboratory for Internet Medical Systems and Applications, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, P. R. China., Liu H; Department of Orthopedics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, P. R. China., Zhu W; Department of Orthopedics, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Jiao Tong University, Shanghai, 200233, P. R. China., Xu D; Department of Orthopedics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, P. R. China.

Publikováno v: Small (Weinheim an der Bergstrasse, Germany) [Small] 2024 Oct 03, pp. e2407340. Date of Electronic Publication: 2024 Oct 03.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.