Results 171 to 180 of about 130,447 (231)

An Autopsy Case of Neurofibromatosis Type 1 Mutation Detected in a Duodenal Lesion of Malignant Melanoma: A Case Report. [PDF]

Cureus
Seki M, Saitou E, Saito S, Araki T, Shinohara Y, Fujihira K, Oyama T, Yokoo H.   +7 more
europepmc   +1 more source

Earliest depiction of port wine stains, eye signs and ear deformity in the portrait of Edward Grimston (c. 1399-1478) by Petrus Christus. [PDF]

J Neurol
Ashrafian H, Harling L.
europepmc   +1 more source

Dry matter intake and milk yield prediction equations based on animal factors and fecal specters using NIRS : preliminary results [PDF]

, 2007
Lecomte, Philippe, Salgado, Paulo, Tran Hiep,   +2 more
core  

Clinical characteristics and healthcare burden of neurofibromatosis type 1 in Saudi Arabia: a single centre experience. [PDF]

Hered Cancer Clin Pract
Almuqbil MA, Ammari MA, Al Dhayyan NS, Kaithathara ST, Al Balwi M.   +4 more
europepmc   +1 more source

Confounding Association of Lower Limb Hypertrophy With Retarded Long Bone Growth in Mosaic Somatic Neurofibromatosis 1-A Genetic Review and Femoral Lengthening Treatment. [PDF]

J Am Acad Orthop Surg Glob Res Rev
Abraham E, Mungalpara NK, Choubey A, Alvarez J.   +3 more
europepmc   +1 more source

Kaufman oculocerebrofacial syndrome: case report of a UBE3B splice site variant and clinical overview of reported patients. [PDF]

Mol Cytogenet
Abdelfattah AS, Saleh MA.
europepmc   +1 more source

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with <i>NF1</i> point variants. [PDF]

J Med Genet
Pacot L, Blok M, Vidaud D, Fertitta L, Laurendeau I, Coustier A, Maillard T, Barbance C, Hadjadj D, Ye M, Lallemand D, Ferkal S, Funalot B, Lunati-Rozie A, Hebrard B, Bhouri R, Spruijt L, Bessis D, Geneviève D, Vernimmen V, Broen MPG, Sigaudy S, Odent S, Damaj L, Quélin C, Pasquier L, Layet V, Gilbert-Dussardier B, Nicolas G, Guerrot AM, Leheup B, Bursztejn AC, Petit F, Boute-Bénéjean O, Capri Y, Guimier A, Lyonnet S, Baujat G, Bourrat E, Isidor B, Nizon M, Barbarot S, Toutain A, Blesson S, Van-Gils J, Morice-Picard F, Audebert-Bellanger S, Mazereeuw-Hautier J, Ziegler A, Alembik Y, Piard J, Brischoux-Boucher E, Guerrini-Rousseau L, Morera J, Paquis-Flucklinger V, Delobel B, Alessandri JL, Parfait B, NF-France network, Wolkenstein P, Pasmant E.   +60 more
europepmc   +1 more source

Children's services improvement support protocol [PDF]

, 2008

core  

A case of ADH5/ALDH2 deficiency combined with 3q29 microduplication syndrome. [PDF]

BMC Pediatr
Chenzhuo S, Lingling F, Ang W, Hui C, Ruixin W, Bixi Y, Hongmin L, Jie M, Tianyou W.   +8 more
europepmc   +1 more source

Incidental Adrenal Mass in a Patient With a Known History of Neurofibromatosis: A Case Report. [PDF]

Cureus
Jacobsen TP, Keles GB, Amer SS, Mogilevskiy V, Patel KT.   +4 more
europepmc   +1 more source