Results 101 to 110 of about 1,501 (178)

Macrocerebellum: Significance and Pathogenic Considerations [PDF]

, 2018
Macrocerebellum is a rare finding characterized by an abnormally large cerebellum. Only few patients with a syndromal or isolated macrocerebellum have been reported so far.
Benson, Jane, Boltshauser, Eugen, Grunt, Sebastian, Huisman, Thierry, Jung, Nikolai, Mall, Volker, Meoded, Avner, Neuhann, Teresa, Poretti, Andrea, Rauch, Anita, Risen, Sarah, Smitka, Martin, Steinlin, Maja, Tinschert, Sigrid, Toelle, Sandra, Yoshida, Shoko   +15 more
core  

Megalensefali-kapiller malformasyon sendromu ve anestezi [PDF]

, 2015
Megalensefali-kapiller malformasyon sendromu; makrosefali, kortikal beyin malformasyonları ve polimikrogri, beyin ve vücutta asimetrik büyüme, jeneralize veya fasiyal kapiller malformasyonlar, sindaktili/polidaktili gibi dijital anomaliler ve bağ dokusu
Elife Türkan, Gürsel Levent Oktar, Kutluk Pampal, Metin Alkan, Mustafa Arslan   +4 more
core   +1 more source

Wilms tumor characteristics in children with heterozygous germline DIS3L2 variants [PDF]

Purpose: Heterozygous germline DIS3L2 pathogenic variants were recently linked to Wilms tumor (WT) predisposition. Limited data on cancer penetrance and characteristics complicate surveillance/management recommendations.
Al-Saadi, R., Armstrong, R., Behjati, S., Brzezinski, J., de Putter, R., Duncan, C., Gessler, M., Graf, N., Herkert, J. C., Hol, J. A., Jakkula, E. E., Jongmans, M. C.J., Kamihara, J., Kuiper, R. P., Le Gall, J., Michaeli, O., Mullen, E. A., Ortiz, M. V., Schienda, J., Treger, T. D., van den Heuvel-Eibrink, M. M., van Peer, S. E., Verschuur, A., Waanders, E., Wegert, J.   +24 more
core   +2 more sources

Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome: a case report and review of the literature [PDF]

, 2009
Aguilar-Medina, E Maribel, Arámbula-Meraz, Eliakym, Dueñas-Arias, Jesus E, Frías-Castro, Luis O, Luque-Ortega, Fred, Quibrera-Matienzo, Jose A, Ramos-Payán, Rosalio   +6 more
core   +2 more sources

Three Cases of Cutis Marmorata Telangiectatica Congenita [PDF]

, 2001
Gil-ju Yi, Chong-Hyeok Kim
openalex   +1 more source

Atrophic cutis marmorata telangiectatica congenita

, 2022
Arunachalam Narayanan, Chaitanya Pratapaneni   +1 more
openalex   +1 more source

Cutis marmorata telangiectatica congenital [PDF]

, 2013
Araújo, C, Brito, C, Resende, CI, Vieira, AP   +3 more
core   +2 more sources

Aplasia cutis congenita de cuero cabelludo. Estudio clínico de 35 pacientes y su relación con los defectos de la línea media. [PDF]

, 2005
RESUMEN Introducción: La hipótesis de cierre intermitente del tubo neural justificaría la asociación de aplasia cutis congénita de cuero cabelludo (ACCCC) con raquisquisis a nivel lumbo-sacro sin defectos de la piel suprayacente a ese nivel, hecho del
Calduch Rodríguez, Luis Javier
core  

Cutis marmorata telangiectatica congenita in a female newborn

, 2017
Maíra Esselin, Adriana Silva
openalex   +1 more source

Ophthalmologic alterations in cutis marmorata telangiectatica congenita: a series of cases

, 2021
Lana Sayuri Makita, Bernardo Carvalho Muniz, Flávio Mac Cord Medina   +2 more
openalex   +1 more source