Results 231 to 240 of about 49,640 (282)

Novel <i>RAD50</i> variants lead to Nijmegen Breakage Syndrome-like disorder and unplanned recombinant human growth hormone treatment response. [PDF]

Front Endocrinol (Lausanne)
Gong Y, Jiang M, Wu S, Guo S, Lyu Y.
europepmc   +1 more source

<i>KIF5C</i>-Related Neurodevelopmental Disorder: Three New Cases and Additional Neuroradiologic Insights. [PDF]

Neurol Genet
Politano D, Gana S, Orcesi S, Serpieri V, Rognone E, Pichiecchio A, Parazzini C, Tonduti D, Tartara E, Valente EM, Errichiello E.   +10 more
europepmc   +1 more source

Plenary Abstracts Session & Oral Presentations

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Early GH therapy and neurodevelopmental outcome in a child with compound heterozygous <i>IGF1R</i> variants. [PDF]

JCEM Case Rep
Sá Pinto M, Oliveira M, Ferrão T, Ramos F, Cardoso R, Leite AL.   +5 more
europepmc   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

The microcephaly protein Abnormal Spindle has an essential role in symmetrically dividing neural precursors to promote brain growth and development. [PDF]

Dev Biol
Chakraborty S, Florez S, Govaerts J, Hawke A, Schoborg T.   +4 more
europepmc   +1 more source

Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly. [PDF]

Orphanet J Rare Dis
Proepper CR, Schwarz LM, Schuetz SM, von Au K, Bast T, Beaud N, Borggraefe I, Bosch F, Busse M, Chung J, Debus O, Diepold K, Fries T, von Gersdorff G, Haeussler M, Hahn A, Hartlieb T, Heiming R, Herkenrath P, Kluger G, Kreth JH, Kurlemann G, Moeller P, Morris-Rosendahl DJ, Panzer A, Philippi H, Ruegner S, Toepfer C, Vieker S, Wiemer-Kruel A, Winter A, Schuierer G, Hehr U, Geis T.   +33 more
europepmc   +1 more source

Lingual Dyskinesia as the Presenting Feature of Acquired Demyelinating Syndrome: A Case Report and Review of Differential Diagnoses

Journal of Paediatrics and Child Health, Volume 62, Issue 6, Page 1060-1065, June 2026.
Briana Davis, Ahmed Kaki, Eppie M. Yiu, Emma Macdonald‐Laurs   +3 more
wiley   +1 more source

Expanding the Phenotypic Spectrum of <i>SLC1A4</i>-Related Spastic Tetraplegia: A Case With Novel Multisystem Features. [PDF]

J Investig Med High Impact Case Rep
Mujahed RH, Alawawdeh L, Nassar B, Khalaf RA, Qabaha AH, Makhlouf TZ.   +5 more
europepmc   +1 more source

A cross-sectional study on the growth and development of preterm infants during the first year of life in Tibet's Lhasa Region. [PDF]

Medicine (Baltimore)
Luo Q, Suolang Y, Bu C, Deng Y.
europepmc   +1 more source