Results 171 to 180 of about 3,402 (231)

Cutis Laxa-Clinically Decoding the Complex Genodermatoses. [PDF]

Indian Dermatol Online J
Ritu K, Mrig PA, Yadav S, Sardana K, Paliwal P.   +4 more
europepmc   +1 more source

Malformations of cortical development: Fetal imaging and genetics. [PDF]

Mol Genet Genomic Med
Wang LL, Pan PS, Ma H, He C, Qin ZL, He W, Huang J, Tan SY, Meng DH, Wei HW, Yin AH.   +10 more
europepmc   +1 more source

MRI Evaluation of Corpus Callosum Malformation and Associated Anomalies: A Retrospective Cross-Sectional Study. [PDF]

Cureus
Saurya S, Dhamija B, Sharma S, Singh RS, Ks P, Kumar S, Siddhant K, Haque S.   +7 more
europepmc   +1 more source

Association of Congenital Mesoblastic Nephroma and Cerebral Lissencephaly/Pachygyria: Case Report and Literature Review

Hristina Zakić, Olivera Kontić‐Vučinić, Jelena Stamenković, Jovan Jevtić, Milena Mitrović, Maja Životić   +5 more
openalex   +1 more source

Pituitary stalk interruption syndrome - lissencephaly-pachygyria spectrum

, 2019
Henry Knipe, Ammar Haouimi
openalex   +1 more source

Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly. [PDF]

Eur J Hum Genet
Uctepe E, Vona B, Esen FN, Sonmez FM, Smol T, Tümer S, Mancılar H, Geylan Durgun DE, Boute O, Moghbeli M, Ghayoor Karimiani E, Hashemi N, Bakhshoodeh B, Kim HG, Maroofian R, Yesilyurt A.   +15 more
europepmc   +1 more source

Expression of Autophagy-Related Proteins in Microlissencephaly Associated with a Novel Variant in the <i>WDR81</i> Gene. [PDF]

Mol Syndromol
Yalçın HY, Karabay U, Cinleti T, Teke Kısa P, Eğrilmez MY, Ayaz A, Aydın N.   +6 more
europepmc   +1 more source

Dysregulation of mTOR signalling is a converging mechanism in lissencephaly. [PDF]

Nature
Zhang C, Liang D, Ercan-Sencicek AG, Bulut AS, Cortes J, Cheng IQ, Henegariu O, Nishimura S, Wang X, Peksen AB, Takeo Y, Caglar C, Lam TT, Koroglu MN, Narayanan A, Lopez-Giraldez F, Miyagishima DF, Mishra-Gorur K, Barak T, Yasuno K, Erson-Omay EZ, Yalcinkaya C, Wang G, Mane S, Kaymakcalan H, Guzel A, Caglayan AO, Tuysuz B, Sestan N, Gunel M, Louvi A, Bilguvar K.   +31 more
europepmc   +1 more source

Aurea Mediocritas: mTOR Abides the Golden Mean. [PDF]

Epilepsy Curr
Riley VA, Danzer SC.
europepmc   +1 more source