Results 121 to 130 of about 297,007 (186)

Delayed Genetic Diagnosis of a Rare Presentation of Overlapping Peripheral Myelin Protein 22 (PMP22) Neuropathies. [PDF]

Cureus
Pandey HK, Gudenkauf KJ, Swaminathan V.
europepmc   +1 more source

Expanding the TBL1XR1 Disease Spectrum: Generalized Dystonia Associated with a New Genetic Variant. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Löw MJ, Bernsdorff F, Weinrich C, Biskup S, Jüngling J, van Riesen C, Maass F.   +6 more
europepmc   +1 more source

A Case Report of a Novel Myelin Protein Zero (<i>MPZ</i>) Pathogenic Variant in Charcot-Marie-Tooth Disease Combined With Type 2 Diabetes. [PDF]

Case Rep Genet
Xia L, Cai L, Chen X, Zhou K, Huang W, Zhu Y, Yang S.   +6 more
europepmc   +1 more source

Mild form of aromatic L-amino acid decarboxylase deficiency. [PDF]

BMJ Case Rep
Kenina V, Dīriks M, Pūcīte E, Mūrmane D, Lace B.   +4 more
europepmc   +1 more source

Bone Mass and Sexual Dimorphism in Clarke's Angle: A Multivariate Regression Approach to the Medial Longitudinal Arch in University Students. [PDF]

J Funct Morphol Kinesiol
Guali DS, Piamba Ome VM, Monterrosa-Quintero A, Becerra-Patiño BA, Caballero LGR, De la Rosa A.   +5 more
europepmc   +1 more source

Defining Potential Neurovascular Risk Zones in Superficial Plantar-Medial Release: An Anatomical Study. [PDF]

J Pers Med
Mandler EM, Düzgün Z, Mittendorfer JM, Altmann JR, Hirtler L.   +4 more
europepmc   +1 more source

Novel <i>VRK1</i> Variants and a Founder Effect in Axonal Polyneuropathy. [PDF]

Neurol Genet
Xu K, Zeng S, Li X, Li Z, Liu Y, Wang M, Xie Y, Liu L, Cao W, Huang S, Zhao H, Tang B, Zhang R.   +12 more
europepmc   +1 more source

EPIDEMIOLOGICAL PROFILE OF CONGENITAL FOOT ANOMALIES IN THE STATE OF BAHIA FROM 2014 TO 2022. [PDF]

Acta Ortop Bras
Dos Santos JN, Braga RP, Marques AA, Almeida JPFP, Dos Santos PF.   +4 more
europepmc   +1 more source

Explainable AI-based clinical decision support system for flatfoot classification using deep learning. [PDF]

Front Digit Health
Vardhan VH, Rahul SG, Amirthalakshmi TM, Venkatasubramanian K.   +3 more
europepmc   +1 more source

Atypical Early Presentation of Multicentric Carpotarsal Osteolysis: Ankle Pain and Cavovarus Deformity Without Osteolysis. [PDF]

Cureus
Kim D, McGraw M, Kucera J, Chandra T, Bajaj M.   +4 more
europepmc   +1 more source