Publications by authors named "Madelena Martin"

Claim this Profile
G
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Annette Lischka, Katja Eggermann, Christopher J Record, Maike F Dohrn, Petra Laššuthová, Martin Ungelenk, Madelena Martin

Brain· December 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.
David Dimmock, Sara Caylor, Bryce Waldman, Wendy Benson, Christina Ashburner, Madelena Martin

Am J Hum Genet· July 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
W
Wieacker-Wolff syndrome with associated cleft palate in a female case.
Natalie D Godfrey, Samandar Dowlatshahi, Madelena M Martin, Douglas M Rothkopf

Am J Med Genet A· January 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis.
Jennifer Kane, Kristen Berrebi, Riley McLean, Stephanie Petkiewicz, Beverly Hay, Madelena Martin

Clin Case Rep· July 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Menkes Disease Mimicking Child Abuse.
Rebecca J Droms, Jillian F Rork, Riley McLean, Madelena Martin, Leah Belazarian

Pediatr Dermatol· May 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico.
Kris M Mahadeo, Ndeye Diop-Bove, Sonia I Ramirez, Carmen L Cadilla, Enid Rivera, Madelena Martin

J Pediatr· October 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter.
Arturo Borzutzky, Brian Crompton, Anke K Bergmann, Silvia Giliani, Sachin Baxi, Madelena Martin

Clin Immunol· December 2009

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
O
Oculo-ectodermal syndrome: is arachnoid cyst a common finding?
Madelena M Martin, Tai Lockspieler, Anne M Slavotinek

Clin Dysmorphol· January 2007

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical features and management issues in Mowat-Wilson syndrome.
Margaret P Adam, Susan Schelley, Renata Gallagher, April N Brady, Kimberly Barr, Madelena Martin

Am J Med Genet A· December 2006

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
ABCA12 is the major harlequin ichthyosis gene.
Anna C Thomas, Tom Cullup, Elizabeth E Norgett, Tara Hill, Stephanie Barton, Madelena Martin

J Invest Dermatol· November 2006

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis