Results 51 to 60 of about 2,491 (128)

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder. [PDF]

Am J Med Genet A
Bradbrook SM, Graham G, Carter MT, Kibaek M, Fagerberg C, Larsen MJ, Dawson K, Meuter C, Pepler A, Besnard T, Vincent M, Isidor B, Bezieau S, Cogne B, Bjørgo K, Amundsen SS, Courtin T, Emrick L, Rosenfeld JA, Weisz-Hubshman M, Undiagnosed Diseases Network, Mak BC, Martinez-Agosto J, Heulin M, Morin G, Keren B, Schutz S, Monin P, Pujalte M, Januel L, Lesca G, Valence MB, Margot H, Levy J, Iovino E, Isidori F, Pippucci T, Montanari F, Bell L, Burton J, Torti E, Wentzensen IM, Marcadier J.   +42 more
europepmc   +1 more source

Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families. [PDF]

Mol Genet Metab Rep
Sui Y, Lu Y, Lin M, Chen X, Ni X, Li H, Jiang M.   +6 more
europepmc   +1 more source

Beyond the usual spectrum: Atrial septal defect in a Marfan syndrome patient with severe aortic pathologies. [PDF]

J Family Med Prim Care
Agrawal PK, Dev S, Panda SK, Yadav SS, Srivastava A.   +4 more
europepmc   +1 more source

Genotype-Phenotype Correlation Insights Through Molecular Modeling Analysis in a Patient with Loeys-Dietz Syndrome. [PDF]

Genes (Basel)
Stathori G, Koniari E, Vlachakis D, Papanikolaou E, Chrousos GP, Yapijakis C.   +5 more
europepmc   +1 more source

Brittle cornea syndrome: Integrating unique presentations and novel management options.

Oman J Ophthalmol
Balakrishnan J, Bari A, Maharana PK, Agarwal T, Dada T, Sharma N.   +5 more
europepmc   +1 more source

Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype-phenotype insights. [PDF]

Hum Genome Var
Kido J, Ueno H, Misumi Y, Sugawara K, Saito S, Koshimizu E, Matsumoto N, Ueda M, Nakamura K.   +8 more
europepmc   +1 more source

A giant hiatal hernia with a congenital diaphragmatic hernia in a pediatric patient with arterial tortuosity syndrome: a case report. [PDF]

Front Pediatr
Almabyouq FJ, Abualsaud ZF, Alabbas RMA.
europepmc   +1 more source

Perioperative Care of a Pediatric Patient With Beals Syndrome. [PDF]

J Med Cases
Wrona A, Holladay J, Tobias JD.
europepmc   +1 more source

Rheumatic and musculoskeletal disorders in musicians: risks, adaptations and management. [PDF]

RMD Open
Autret L, Shipley É, Lodde B, Hinojosa-Azaola A, Saraux A.   +4 more
europepmc   +1 more source

Congenital Heart Defects and Skeletal Malformations Syndrome (CHDSKM) Associated with the <i>ABL1</i> Gene in a Peruvian patient: Case Report. [PDF]

Clin Med Insights Cardiol
Arauco-Lázaro D, Purizaca-Rosillo ND, Rojas-Huillca MA, Vásquez-Villanueva S, Gutierrez EL.   +4 more
europepmc   +1 more source