The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders

Source
Brain - ISSN 0006-8950-147:8 (2024) p. 2775-2790
Author(s)
    Jai Sidpra, Sniya Sudhakar, Asthik Biswas, Flavia Massey, Valentina Turchetti, Tracy Lau, Edward Cook, Javeria Raza Alvi, Hasnaa M. Elbendary, Jerry L. Jewell, Antonella Riva, Alessandro Orsini, Aglaia Vignoli, Zara Federico, Jessica Rosenblum, An-Sofie Schoonjans, Matthias De Wachter, Ignacio Delgado Alvarez, Ana Felipe-Rucian, Nourelhoda A. Haridy, Shahzad Haider, Mashaya Zaman, Selina Banu, Najwa Anwaar, Fatima Rahman, Shazia Maqbool, Rashmi Yadav, Vincenzo Salpietro, Reza Maroofian, Rajan Patel, Rupa Radhakrishnan, Sanjay P. Prabhu, Klaske Lichtenbelt, Helen Stewart, Yoshiko Murakami, Ulrike Lobel, Felice D'Arco, Emma Wakeling, Wendy Jones, Eleanor Hay, Sanjay Bhate, Thomas S. Jacques, David M. Mirsky, Matthew T. Whitehead, Maha S. Zaki, Tipu Sultan, Pasquale Striano, Anna Jansen, Maarten Lequin, Kshitij Mankad

Macrocephaly? Do not forget SUFU

Source
Pediatric neurology - ISSN 0887-8994-151 (2024) p. 34-36
Author(s)
    Ellen Rijckmans, Victoria Bordon, Thomy de Ravel, Elien Baert, Anna Jansen, Katrien Stouffs

Interorganisational collaboration to improve accessibility of diagnostic evaluations for children with a developmental disability

Source
Health Services Insights - ISSN 1178-6329-17 (2024) p. 1-10
Author(s)

Diagnostic work-up in malformations of cortical development

Source
Developmental medicine and child neurology - ISSN 0012-1622-66:8 (2024) p. 974-989
Author(s)