Results 111 to 120 of about 22,844 (195)

Westberg Family Pedigree Chart

, 2016
Holly M Westberg
openalex   +1 more source

Generalized tonic-clonic seizures as the initial symptom of late-onset Krabbe disease: a Case Report. [PDF]

Front Behav Neurosci
Xie S, Kuang Z, Pan M, Zhang K, Ye J, Li B, Luo S, Wang Z.   +7 more
europepmc   +1 more source

Discordant phenotype caused by TREX1 variant in siblings with Aicardi-Goutières syndrome. [PDF]

Pediatr Rheumatol Online J
Liu R, Kretschmer S, Switala P, Attia M, Lee-Kirsch MA, Wolf C.   +5 more
europepmc   +1 more source

Ataxia, intentional tremor and hypotonia syndrome caused by a novel <i>POU4F1</i> gene mutation: a case report. [PDF]

Front Genet
Hu Q, Zhu F, Wang W, Xu Y, Ren H, Zheng Y, Jiang Y, Ke S.   +7 more
europepmc   +1 more source

Kindler Syndrome in a 24-Year-Old Male: A Clinical Diagnosis in the Absence of Genetic Testing: A Rare Case Report. [PDF]

Case Rep Dermatol Med
Ahmad DS, Nasser R, Mahmoud A, Al-Janabi MH, Al-Shehabi Z, Hassan F.   +5 more
europepmc   +1 more source

Review Essay: Re-contextualising the re-contextualisers or pedagogy of the impressed? [PDF]

, 2010
Green, Tony
core   +1 more source

Familial Xq27.1q28 duplication arising from a maternal interarm forward insertion of the X chromosome: a case report. [PDF]

Front Genet
Li X, Peng YM, Luo BW, Luo YD, Qin YR, Feng K, Li DR, Yang ZY, Zhu LL, Pan JJ, Song JJ, Liang J, Liu WW, Deng GS.   +13 more
europepmc   +1 more source

Familial Primary Cutaneous Amyloidosis Across Generations. [PDF]

Indian Dermatol Online J
Somasundaram A, Rekha JS, Ramassamy S, Kumar S.   +3 more
europepmc   +1 more source

Hereditary Hemorrhagic telangiectasia: a rare familial case with delayed diagnosis despite decades of recurrent bleeding. [PDF]

Oxf Med Case Reports
Rahi AV, Kumar A, Singh J, Kumar N, Kumar K, Dinkar A.   +5 more
europepmc   +1 more source

Identification of variants in SWI/SNF complex genes associated with neurodevelopmental disorders. [PDF]

Front Genet
Liang C, Shi H, Chen Y, Wang X, Jin J, Su L, Tang L, Li H, Ling F, Li H, Zhang Y.   +10 more
europepmc   +1 more source