Results 131 to 140 of about 2,309 (169)

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. [PDF]

Am J Hum Genet, 2020
Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung KCP, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA.   +40 more
europepmc   +1 more source

[Congenital cutis laxa: a case study]. [PDF]

Pan Afr Med J, 2019
El Ouali A, Azizi M, Dikhaye S, Benajiba N.   +3 more
europepmc   +1 more source

Overview of the Pulmonary Manifestations in Patients with Autosomal Recessive Cutis Laxa Type IC. [PDF]

Pediatr Allergy Immunol Pulmonol, 2020
Mutlu-Albayrak H, Emiralioğlu N, Damar Ç.   +2 more
europepmc   +1 more source

Penicillamine-Induced Localised Cutis Laxa in a Patient with Wilson Disease: A Case Report. [PDF]

Mediterr J Rheumatol
Routsi E, Kanelleas A, Papaefthymiou V, Pappa G, Katoulis A.   +4 more
europepmc   +1 more source

Cutis laxa with pulmonary artery stenosis

Indian Dermatology Online Journal, 2012
Krina B Patel, Ruchin Patel
doaj   +1 more source

Acquired Cutis Laxa Type 2 (Marshall's Syndrome) Associated with Sweet's Syndrome: A Rare Entity.

Indian J Dermatol
Samal A, Bhoi A, Mohanty J, Mishra C, Basa A, Dash S.   +5 more
europepmc   +1 more source

The Human Mutation K237_V238del in a Putative Lipid Binding Motif within the V-ATPase a2 Isoform Suggests a Molecular Mechanism Underlying Cutis Laxa. [PDF]

Int J Mol Sci
Chu A, Yao Y, Glibowicka M, Deber CM, Manolson MF.   +4 more
europepmc   +1 more source

Oculopatia na polineuropatia amiloidótica familiar tipo Português [PDF]

, 2014
João Nuno Melo Beirão
core  

Aforismos de Boerhave para conocer y curar las calenturas [PDF]

Boerhaave, Hermann, 1668-1738, Lavedán, Antonio, Stoll, Maximiliano   +2 more
core   +1 more source

Diccionario nacional o gran diccionario clásico de la lengua española... : Aventaja a los demás diccionarios de la lengua en más de 4600 voces...comprendiendo además los nombres y situación de todos los pueblos de España, de todas las principales ciudades del mundo... [PDF]

, 2020
Domínguez, Ramón Joaquín, 1811-1848
core   +1 more source