Results 121 to 130 of about 2,255 (147)

Newborn with Refractory Seizures due to Hemimegalencephaly and Tuberous Sclerosis Complex: Case Report and Literature Review. [PDF]

Neuropediatrics
Rondagh M, de Vries LS, Meeren LEV, Tromp SC, Peeters-Scholte CMPCD, Toirkens MJP, Steggerda SJ.   +6 more
europepmc   +1 more source

Craniosynostosis Associated With Novel TUBG1 Mutation (NM_001070.4:c.821C>T) (p.Thr274Ile). [PDF]

Cureus
Ash AS, Klifto KM, Willson TD.
europepmc   +1 more source

Intracranial Structural Malformations in Children in Tibet: CT and MRI Findings in a Single Tertiary Center. [PDF]

Curr Med Imaging
Yin X, Ciren D, Guojie C, Zhang G, Wang J, Zhang H.   +5 more
europepmc   +1 more source

Pyloric Stenosis in a Patient with CEDNIK Syndrome. [PDF]

Cureus
Potesta MA, Aldana V, Patel S.
europepmc   +1 more source

Selective Fetal Growth Restriction Leading to Cerebral Injury in Monochorionic Twins: A Case Report. [PDF]

Cureus
Campos P, Matos AR, Ferraz A, Henriques R.   +3 more
europepmc   +1 more source

KIF11-related Microcephaly with Chorioretinopathy and Pachygyria: A Case Report of a De novo Start Codon Variant in an Indian Child

P. Muhammed Shabeer, Sameer Bhatia, Abha Gahlot, Renu Saxena, Sunita Bijarnia‐Mahay   +4 more
openalex   +1 more source

A case of pachygyria associated with total hemiatrophy and partial epilepsy.

, 1984
Midori OMORI, Mikio Osawa, Akiko MIURA, Eiko Kitamura, Kiyomi YAMANE, Megumi TAKEUCHI, Itsuro Kobayashi, Toshiko Takemiya, Shoichi MARUYAMA, Osamu Isozaki, Toshio Tsushima   +10 more
openalex   +2 more sources

Capturing disease severity in LIS1-lissencephaly reveals proteostasis dysregulation in patient-derived forebrain organoids. [PDF]

Nat Commun
Zillich L, Gasparotto M, Rossetti AC, Fechtner O, Maillard C, Hoffrichter A, Zillich E, Jabali A, Marsoner F, Artioli A, Wilkens R, Schroeter CB, Hentschel A, Witt SH, Melzer N, Meuth SG, Ruck T, Koch P, Roos A, Bahi-Buisson N, Francis F, Ladewig J.   +21 more
europepmc   +1 more source

Two-Compound Heterozygous Deletions Affecting <i>TUBGCP6</i> in a Patient with Microcephaly and Ocular Abnormalities and in an Unborn Sibling with Abnormal Sulcation. [PDF]

Mol Syndromol
Pal S, Kulshrestha S, Garg N, Gupta D, Gupta ND, Puri RD.   +5 more
europepmc   +1 more source

Case Report: A case of complex cortical dysplasia with central precocious puberty onset. [PDF]

Front Pediatr
Guo C, Chen C, Wang X, Lin K, Guo J, Ge P.   +5 more
europepmc   +1 more source