Results 131 to 140 of about 11,022 (215)

Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities. [PDF]

Am J Hum Genet
Pehlivan D, Sandoval A, Maroofian R, Lecoquierre F, Al Shamsi AM, Lee GS, Yesilbas O, Taylor P, McDougal MB, Bahrambeigi V, Aryani O, Ramirez JF, Salih KH, Al Alam C, Morsy H, Hussien H, Omar T, Abdelrazek IM, Brehin AC, Marafi D, Kalayci T, Rahma JA, Talbeya JK, Dabbah H, Verspyck E, Moosavian T, Fatih JM, Mitani T, Akay G, Calame DG, Guerrot AM, Chung WK, Houlden H, Lupski JR, Shalata A, Yoon WH.   +35 more
europepmc   +1 more source

Rethinking fetal central nervous system anomalies: predicting central nervous system anomalies with corpus callosum to head circumference and occipitofrontal diameter ratios. [PDF]

BMC Pregnancy Childbirth
Duymuş AC, Bozbay N, Kılıç Ş, Yıldırım O, Örgül G, Pekin AT.   +5 more
europepmc   +1 more source

A Case of Neonatal Hypomelanosis of Ito With Early-Onset Refractory Seizures and Cortical Malformations. [PDF]

Cureus
Alassouli YM, Tahir S, Vrushabhendra S, Kashyape P, Thyagarajan M, O E Babiker M.   +5 more
europepmc   +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

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

Classical Lissencephaly [PDF]

, 2020
openaire   +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

Infantile Spasms (West Syndrome): Integrating Genetic, Neurotrophic, and Hormonal Mechanisms Toward Precision Therapy. [PDF]

Medicina (Kaunas)
Abdygalyk B, Rabandiyarov M, Lepessova M, Koshkimbayeva G, Zharkinbekova N, Tekebayeva L, Zhailganov A, Issabekova A, Myrzaliyeva B, Tulendiyeva A, Kurmantay A, Turmanbetova A, Yerkenova S.   +12 more
europepmc   +1 more source

Lissencephaly

, 2015
openaire   +1 more source