Results 131 to 140 of about 7,462 (203)

Lissencephaly

, 2015
openaire   +1 more source

Lissencephaly [PDF]

, 2019
openaire   +1 more source

Deep clinical and genetic analysis of 17p13.3 region: 38 pediatric patients diagnosed using next-generation sequencing and literature review. [PDF]

BMC Med Genomics
Ji X, Xu Q, Lu Y, Liu B, Xiao F, Ni Q, Xu S, Liu R, Li G, Wu B, Zhou S, Wang H.   +11 more
europepmc   +1 more source

Myeloid/lymphoid neoplasm with FLT3 gene fusion: report of a case with a novel t(5;13)(q13;q12) SSBP2::FLT3 fusion. [PDF]

J Hematop
Cook JR, Astbury C, Bosler DS, Molina JC, Rogers HJ, Sobecks RM, Owczarczyk AB.   +6 more
europepmc   +1 more source

Bridging the anatomical gap: evolutionary conservation of genetic mechanisms in corpus callosum disorders across human, mouse, and zebrafish. [PDF]

Front Mol Neurosci
Ayushma, Srivastava PP, Minocha S.
europepmc   +1 more source

Fetal malformations of cortical development: review and clinical guidance. [PDF]

Brain
Russ JB, Agarwal S, Venkatesan C, Scelsa B, Vollmer B, Tarui T, Pardo AC, Lemmon ME, Mulkey SB, Hart AR, Nagaraj UD, Kuller JA, Whitehead MT, Cohen JL, Gebb JS, Glenn OA, Norton ME, Gano D.   +17 more
europepmc   +1 more source

Understanding the Molecular Basis of Miller-Dieker Syndrome. [PDF]

Int J Mol Sci
Mahendran G, Brown JA.
europepmc   +1 more source

A clinical and genotype-phenotype analysis of MACF1 variants. [PDF]

Am J Hum Genet
Dekker J, Schot R, Aldinger KA, Everman DB, Washington C, Jones JR, Sullivan JA, Spillmann RC, Shashi V, Vitobello A, Denommé-Pichon AS, Mosca-Boidron AL, Perrin L, Auvin S, Zaki MS, Gleeson JG, Meave N, Wallace C, Nambot S, Delanne J, Ruggiero SM, Helbig I, Fitzgerald MP, Leventer RJ, Grange DK, Argilli E, Sherr EH, Prakash S, Neilson DE, Nicita F, Sferra A, Bertini ES, Aiello C, Brockmann K, Kuranov AB, Kaulfuss S, Basit S, Alluqmani M, Almatrafi A, Friedman JM, Guimond C, Mohammed F, Sharma P, Goel D, Wirth T, Anheim M, Bahena P, Koparir A, Kolokotronis K, Vona B, Haaf T, Kunstmann E, Maroofian R, Sczakiel HL, Boschann F, Misra-Isrie M, Louie RJ, Stolerman ES, Sanchez-Lara PA, Mergler S, Oegema R, Zarate YA, Kariminejad A, Tajsharghi H, Zeidler S, Kievit AJA, Bouman A, Cappuccio G, Brunetti-Pierri N, Stuurman KE, Swols DM, Tekin M, Upadia J, Martin DM, Craven D, Hiatt SM, van de Pol LA, D'Arco F, Margot H, Wilke M, Yousefi S, Barakat TS, van Veghel-Plandsoen MM, Aronica E, Anink J, Rogers SL, Slep KC, Doherty D, Dobyns WB, Mancini GMS.   +89 more
europepmc   +1 more source

[Lissencephaly in one of twins].

No to hattatsu = Brain and development, 1985
Utsunomiya, Takushi, Yamawaki, Yasushi, Abe, Yoshiaki, Shimada, Morimi   +3 more
openaire   +2 more sources