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Identified 2

1

TITLE: Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain Full Text
AUTHORS: Partha Sen; Yaping P Yang; Colby Navarro; Iris Silva; Przemyslaw Szafranski; Katarzyna E Kolodziejska; Avinash V Dharmadhikari; Hasnaa Mostafa; Harry Kozakewich; Debra Kearney; John B Cahill; Merrissa Whitt; Masha Bilic; Linda Margraf; Adrian Charles; Jack Goldblatt; Kathleen Gibson; Patrick E Lantz; Julian J Garvin; John Petty; Zeina Kiblawi; Craig Zuppan; Allyn McConkie Rosell; Marie T McDonald; Stacey L Peterson Carmichael; Jane T Gaede; Binoy Shivanna; Deborah Schady; Philippe S Friedlich; Stephen R Hays; Irene Valenzuela Palafoll; Ulrike Siebers Renelt; Axel Bohring; Laura S Finn; Joseph R Siebert; Csaba Galambos; Lananh Nguyen; Melissa Riley; Nicolas Chassaing; Adeline Vigouroux; Gustavo Rocha; Susana Fernandes; Jane Brumbaugh; Kari Roberts; Luk, HM; Ivan F M Lo; Stephen Lam; Romana Gerychova; Marta Jezova; Iveta Valaskova; Florence Fellmann; Katayoun Afshar; Eric Giannoni; Vincent Muhlethaler; Jinlong L Liang; Jacques S Beckmann; Janet Lioy; Hitesh Deshmukh; Lakshmi Srinivasan; Daniel T Swarr; Melissa Sloman; Charles Shaw Smith; Rosa Laura van Loon; Cecilia Hagman; Yves Sznajer; Catherine Barrea; Christine Galant; Thierry Detaille; Jennifer A Wambach; Sessions S Cole; Aaron Hamvas; Lawrence S Prince; Karin E M Diderich; Alice S Brooks; Robert M Verdijk; Hari Ravindranathan; Ella Sugo; David Mowat; Michael L Baker; Claire Langston; Stephen Welty; Pawel Stankiewicz; ...More
PUBLISHED: 2013, SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 6

INDEXED IN:

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2

TITLE: Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome Full Text
AUTHORS: Margot E Bowen; Eric D Boyden; Ingrid A Holm; Belinda Campos Xavier; Luisa Bonafe; Andrea Superti Furga; Shiro Ikegawa; Valerie Cormier Daire; Judith V Bovee; Twinkal C Pansuriya; Sergio B de Sousa; Ravi Savarirayan; Elena Andreucci; Miikka Vikkula; Livia Garavelli; Caroline Pottinger; Toshihiko Ogino; Akinori Sakai; Bianca M Regazzoni; Wim Wuyts; Luca Sangiorgi; Elena Pedrini; Mei Zhu; Harry P Kozakewich; James R Kasser; Jon G Seidman; Kyle C Kurek; Matthew L Warman; ...More
PUBLISHED: 2011, SOURCE: PLOS GENETICS, VOLUME: 7, ISSUE: 4

INDEXED IN:

Scopus

WOS

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