Results 181 to 190 of about 338,913 (237)

Large phenotypic variability with severe respiratory involvement in <i>MEGF10</i>-related myopathies: Description of three cases. [PDF]

J Neuromuscul Dis
Pennisi A, Caramizaru A, Severa G, Sternberg D, Dumitrescu A, Metay C, Biancalana V, Carlier RY, Quijano-Roy S, Malfatti E, Dobrescu A.   +10 more
europepmc   +1 more source

Undiagnosed Maternal Myotonic Dystrophy Type 1 Revealed by Congenital Myotonic Dystrophy in the Neonate. [PDF]

Cureus
Suzui R, Wada I, Matsubara M, Kataoka D.
europepmc   +1 more source

Between myopathy and mortality: Challenges in the diagnosis of <i>PLOD1</i>-related kyphoscoliotic Ehlers-Danlos syndrome. [PDF]

J Neuromuscul Dis
Vill K, Brunet T, Brugger M, Wagner M, Baumann M, Schatz U, Pechmann A, Hannibal I, Tacke M, Giunta C, Wohlgemuth W, Wildgruber M, Müller-Felber W, Blaschek A, Rohrbach M, Huf V.   +15 more
europepmc   +1 more source

Neonatal rotavirus encephalopathy with white matter injury: A case report. [PDF]

IDCases
Madabhushi S, Chalipath S, Rao A, Vaidya U, Bhuyan M, Bijarniya K, Mule V, Gurao R.   +7 more
europepmc   +1 more source

<i>PURA</i>-Related Neurodevelopmental Disorder: Insight from Eight New Cases. [PDF]

Genes (Basel)
Madej-Pilarczyk A, Gawlik M, Chałupczyńska B, Błaszkiewicz J, Wicher D, Cieślikowska A, Babameto-Laku A, Chrzanowska K, Ciara E.   +8 more
europepmc   +1 more source

Wiedemann-Steiner Syndrome (WSS): A Neonatal Case Report Expanding the Phenotypic Spectrum of a Previously Reported Missense Variant. [PDF]

Int J Mol Sci
Poulou M, Kamilari T, Nikaina E, Dikoglou-Tzanetatou E, Kanaka-Gantenbein C, Kolialexi A, Siahanidou T.   +6 more
europepmc   +1 more source

PHRINL Syndrome: A Case of Infantile Cataract and Cardiomyopathy. [PDF]

Mol Syndromol
Gülbahçe A, Deniz A, Tekin İM, Kara B.   +3 more
europepmc   +1 more source

Seven-Year Longitudinal Respiratory Morbidity in Ohtahara Syndrome: A Case Report Emphasizing Integrated Airway and Seizure Care in a Resource-Limited Setting. [PDF]

Case Rep Pediatr
Abualhommos F, Hattab M, Samara M, Suleiman M, Samara E, Abukhater A, Salman I.   +6 more
europepmc   +1 more source

Propionic Acidemia: An Ambispective Cohort Study on Phenotypic and Genotypic Characteristics at a Tertiary Center in Vietnam. [PDF]

Genes (Basel)
Quang DM, Vu CD, Nguyen KN, Nguyen NL, Mai TTC, Huong NTT, Mo DT, Phuong LT, Tran TH, Tu NH, Khoa NX, Vuong VVH, Tran VK.   +12 more
europepmc   +1 more source

Neonatal Bradypnea as an Under-Recognized Manifestation of Prader-Willi Syndrome: A Case Report. [PDF]

Cureus
Ranjan A, Karim S, Valentin JJ, Fakih S.
europepmc   +1 more source