Metadata Search Funding Data Link References Status API Help
Facet browsing currently unavailable
Page 2 of 12021 results
Sort by: relevance publication year

Abnormal neuronal migration defect in the severe variant subtype of Adams–Oliver syndrome

JOURNAL ARTICLE published 15 June 2008 in American Journal of Medical Genetics Part A

Authors: Francesco Brancati | Francesco Giuseppe Garaci | Rita Mingarelli | Bruno Dallapiccola

Constitutional H19 hypermethylation in a patient with isolated cardiac tumor

JOURNAL ARTICLE published 15 August 2008 in American Journal of Medical Genetics Part A

Authors: Maria Descartes | Robb Romp | Judy Franklin | Joseph R. Biggio | Barbara Zehnbauer

JOURNAL ISSUE published April 2008 in American Journal of Medical Genetics Part A

Complete sex reversal in a WAGR syndrome patient

JOURNAL ARTICLE published 15 November 2007 in American Journal of Medical Genetics Part A

Authors: Cedric Le Caignec | Capucine Delnatte | Joris R. Vermeesch | Michelle Boceno | Madeleine Joubert | Francoise Lavenant | Albert David | Jean‐Marie Rival

Erratum

JOURNAL ARTICLE published 15 February 2008 in American Journal of Medical Genetics Part A

Three additional cases of the Michels syndrome

JOURNAL ARTICLE published 15 November 2007 in American Journal of Medical Genetics Part A

Authors: Gabriela F. Leal | Eduardo V.P. Baptista

Spondylocarpotarsal synostosis: Long‐term follow‐up of a case due to FLNB mutations

JOURNAL ARTICLE published May 2008 in American Journal of Medical Genetics Part A

Authors: Nicola Brunetti‐Pierri | Valentina Esposito | Daniele De Brasi | Dario Maria Mattiacci | Deborah Krakow | Brendan Lee | Mariacarolina Salerno

Kidney abnormalities in persons with monosomy 15q26

JOURNAL ARTICLE published July 2008 in American Journal of Medical Genetics Part A

Authors: Iosif W. Lurie

Muscle hemorrhage in a paraplegic adult with neurofibromatosis type 1 and an associated vasculopathy

JOURNAL ARTICLE published 15 September 2008 in American Journal of Medical Genetics Part A

Authors: Philippa C. Matthews | Alexander Jeans | Waney Squier | Usha Kini | Ivor Byren | Bridget L. Atkins

A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia

JOURNAL ARTICLE published September 2008 in American Journal of Medical Genetics Part A

Authors: Gareth Baynam | Nicholas Smith | Jack Goldblatt

A CDKL5 mutated child with precocious puberty

JOURNAL ARTICLE published May 2009 in American Journal of Medical Genetics Part A

Authors: Veronica Saletti | Laura Canafoglia | Paola Cambiaso | Silvia Russo | Margherita Marchi | Daria Riva

JOURNAL ISSUE published 15 August 2008 in American Journal of Medical Genetics Part A

JOURNAL ISSUE published 15 November 2007 in American Journal of Medical Genetics Part A

In This Issue

JOURNAL ARTICLE published October 2012 in American Journal of Medical Genetics Part A

Rare interstitial deletion 9q31.2 to q33.1 de novo: Longitudinal study in a patient over a period of more than 20 years

JOURNAL ARTICLE published May 2008 in American Journal of Medical Genetics Part A

Authors: Ulrike Gamerdinger | Thomas Eggermann | Regine Schubert | Gesa Schwanitz | Martina Kreiß‐Nachtsheim

High copper levels and increased elastolysis in a patient with cutis marmorata teleangiectasia congenita

JOURNAL ARTICLE published October 2008 in American Journal of Medical Genetics Part A

Authors: Aleksander Hinek | Shailly Jain | Glenn Taylor | David Nykanen | David Chitayat

Possible case of sirenomelia in the Tumaco‐Tolita pottery pre‐Columbian culture, 2000 years before the epidemic focus of sirenomelia in Cali‐Colombia

JOURNAL ARTICLE published September 2011 in American Journal of Medical Genetics Part A

Authors: Harry Pachajoa | Carlos Rodriguez

2010 and 2011 American Journal of Medical Genetics Reviewer Listing

JOURNAL ARTICLE published September 2012 in American Journal of Medical Genetics Part A

Authors: Feliz Martinez | John C. Carey

Complex toe syndactyly with characteristic facial phenotype: A new syndrome?

JOURNAL ARTICLE published July 2008 in American Journal of Medical Genetics Part A

Authors: Nara Lygia Macena Sobreira | Mirlene Cecilia S.P. Cernach | Decio Brunoni | Ana Beatriz Alvarez Perez

Gorlin–chaudhry–moss syndrome revisited: Expanding the phenotype

JOURNAL ARTICLE published July 2013 in American Journal of Medical Genetics Part A

Authors: Rasim O. Rosti | Kadri Karaer | Birsen Karaman | Deniz Torun | Sefik Guran | Muhterem Bahce