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Items: 1 to 20 of 166


Biallelic Mismatch Repair Deficiency in an Adolescent Female.

Hildreth A, Valasek MA, Thung I, Savides T, Sivagnanam M, Ramamoorthy S, Huang SC.

Case Rep Genet. 2018 Jul 25;2018:8657823. doi: 10.1155/2018/8657823. eCollection 2018.


A Rare Case of Severe Congenital RYR1-Associated Myopathy.

Laforgia N, Capozza M, De Cosmo L, Di Mauro A, Baldassarre ME, Mercadante F, Torella AL, Nigro V, Resta N.

Case Rep Genet. 2018 Aug 1;2018:6184185. doi: 10.1155/2018/6184185. eCollection 2018.


LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient.

Dimova I, Kremensky I.

Case Rep Genet. 2018 Jul 25;2018:3028145. doi: 10.1155/2018/3028145. eCollection 2018.


Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy.

Wang X, Wu Y, Cui Y, Wang N, Folkersen L, Wang Y.

Case Rep Genet. 2018 Jul 16;2018:8090797. doi: 10.1155/2018/8090797. eCollection 2018.


A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome.

Reyes-de la Rosa ADP, Varela-Fascinetto G, García-Delgado C, Vázquez-Martínez ER, Valencia-Mayoral P, Cerbón M, Morán-Barroso VF.

Case Rep Genet. 2018 Jun 25;2018:1369413. doi: 10.1155/2018/1369413. eCollection 2018.


Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion.

Swan L, Coman D.

Case Rep Genet. 2018 Apr 30;2018:2492437. doi: 10.1155/2018/2492437. eCollection 2018.


Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm.

Mohammad A, Helmi H, Atwal PS.

Case Rep Genet. 2018 Mar 29;2018:6780494. doi: 10.1155/2018/6780494. eCollection 2018.


Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema.

Harris AL, Blackburn PR, Richter JE Jr, Gass JM, Caulfield TR, Mohammad AN, Atwal PS.

Case Rep Genet. 2018 Feb 22;2018:6968395. doi: 10.1155/2018/6968395. eCollection 2018.


Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1.

Burn SC, Swift K, Palmquist M.

Case Rep Genet. 2018 Feb 11;2018:1513534. doi: 10.1155/2018/1513534. eCollection 2018.


A Novel Mutation in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

Whittington JR, Poole AT, Dutta EH, Munn MB.

Case Rep Genet. 2017;2017:9146507. doi: 10.1155/2017/9146507. Epub 2017 Dec 14.


Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features.

Bulut O, Ince Z, Altunoglu U, Yildirim S, Coban A.

Case Rep Genet. 2017;2017:3740524. doi: 10.1155/2017/3740524. Epub 2017 Dec 3.


Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies.

Bloor S, Giri D, Didi M, Senniappan S.

Case Rep Genet. 2017;2017:3941483. doi: 10.1155/2017/3941483. Epub 2017 Nov 28.


SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities.

Zech M, Poustka K, Boesch S, Berutti R, Strom TM, Grisold W, Poewe W, Winkelmann J.

Case Rep Genet. 2017;2017:2721615. doi: 10.1155/2017/2721615. Epub 2017 Oct 29.


Methylmalonic Acidemia with Novel MUT Gene Mutations.

Panigrahi I, Bhunwal S, Varma H, Singh S.

Case Rep Genet. 2017;2017:8984951. doi: 10.1155/2017/8984951. Epub 2017 Oct 12.


Palpitations and Asthenia Associated with Venlafaxine in a CYP2D6 Poor Metabolizer and CYP2C19 Intermediate Metabolizer.

Garcia S, Schuh M, Cheema A, Atwal H, Atwal PS.

Case Rep Genet. 2017;2017:6236714. doi: 10.1155/2017/6236714. Epub 2017 Oct 16.


A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation.

Sánchez AI, Rojas JA.

Case Rep Genet. 2017;2017:8639617. doi: 10.1155/2017/8639617. Epub 2017 Aug 29.


FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome?

Mendieta-Zerón H, Jiménez-Rosales A, Pérez-Amado CJ, Jiménez-Morales S.

Case Rep Genet. 2017;2017:6390545. doi: 10.1155/2017/6390545. Epub 2017 Aug 27.


What Drives Embryo Development? Chromosomal Normality or Mitochondria?

Bayram A, Elkhatib I, Arnanz A, Linan A, Ruiz F, Lawrenz B, Fatemi HM.

Case Rep Genet. 2017;2017:4397434. doi: 10.1155/2017/4397434. Epub 2017 Aug 8.


Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the Literature.

Baek WS, Aypar U.

Case Rep Genet. 2017;2017:9086408. doi: 10.1155/2017/9086408. Epub 2017 Aug 13.


An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly.

Carter J, Brittain H, Morrogh D, Lench N, Waters JJ.

Case Rep Genet. 2017;2017:4894515. doi: 10.1155/2017/4894515. Epub 2017 Jul 27.

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