Accueil
Matthew M Demczko
Matthew M Demczko
Affiliations
Clinic for Special Children, Strasburg, Pennsylvania.
Divisions of Diagnostic Referral Services.
Publications (5)
Newborn Pulse Oximetry for Infants Born Out-of-Hospital.
Pediatrics
Avec:
Katie B Williams
,
Michael Horst
,
Erika A Hollinger
,
Jacob Freedman
,
Matthew M Demczko
,
Devyani Chowdhury
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
Human molecular genetics
Avec:
Katie B Williams
,
Karlla W Brigatti
,
Erik G Puffenberger
,
Claudia Gonzaga-Jauregui
,
Laurie B Griffin
,
Erick D Martinez
,
Olivia K Wenger
,
Mark A Yoder
,
Vinay V R Kandula
,
Michael D Fox
,
Matthew M Demczko
,
Laura Poskitt
,
Katryn N Furuya
,
Jeffrey G Reid
,
John D Overton
,
Aris Baras
,
Lili Miles
,
Kadakkal Radhakrishnan
,
Vincent J Carson
,
Anthony Antonellis
,
Robert N Jinks
,
Kevin A Strauss
Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.
Blood
Avec:
Jahnavi Aluri
,
Alicia Bach
,
Saara Kaviany
,
Luana Chiquetto Paracatu
,
Maleewan Kitcharoensakkul
,
Magdalena A Walkiewicz
,
Christopher D Putnam
,
Marwan Shinawi
,
Nermina Saucier
,
Elise M Rizzi
,
Michael T Harmon
,
Molly P Keppel
,
Michelle Ritter
,
Morgan Similuk
,
Elaine Kulm
,
Michael Joyce
,
Adriana A de Jesus
,
Raphaela Goldbach-Mansky
,
Yi-Shan Lee
,
Marina Cella
,
Peggy L Kendall
,
Mary C Dinauer
,
Jeffrey J Bednarski
,
Christina Bemrich-Stolz
,
Scott W Canna
,
Shirley M Abraham
,
Matthew M Demczko
,
Jonathan Powell
,
Stacie M Jones
,
Amy M Scurlock
,
Suk See De Ravin
,
Jack J Bleesing
,
James A Connelly
,
V Koneti Rao
,
Laura G Schuettpelz
,
Megan A Cooper
Craniosynostosis in a patient with Fanconi-Bickel syndrome: a case report.
Journal of pediatric endocrinology & metabolism : JPEM
Avec:
Matthew M Demczko
,
Tullis T Liu
,
Joseph A Napoli
Clinical, biochemical and molecular characterization of a new case with
JIMD reports
Avec:
Parith Wongkittichote
,
Cassandra Pantano
,
Miao He
,
Xinying Hong
,
Matthew M Demczko
Réseau de co-auteurs
Katie B Williams
2 collaborations
Michael Horst
1 collaboration
Erika A Hollinger
1 collaboration
Jacob Freedman
1 collaboration
Devyani Chowdhury
1 collaboration
Karlla W Brigatti
1 collaboration
Erik G Puffenberger
1 collaboration
Claudia Gonzaga-Jauregui
1 collaboration
Laurie B Griffin
1 collaboration
Erick D Martinez
1 collaboration
Olivia K Wenger
1 collaboration
Mark A Yoder
1 collaboration
Vinay V R Kandula
1 collaboration
Michael D Fox
1 collaboration
Laura Poskitt
1 collaboration
Katryn N Furuya
1 collaboration
Jeffrey G Reid
1 collaboration
John D Overton
1 collaboration
Aris Baras
1 collaboration
Lili Miles
1 collaboration
Kadakkal Radhakrishnan
1 collaboration
Vincent J Carson
1 collaboration
Anthony Antonellis
1 collaboration
Robert N Jinks
1 collaboration
Kevin A Strauss
1 collaboration
Jahnavi Aluri
1 collaboration
Alicia Bach
1 collaboration
Saara Kaviany
1 collaboration
Luana Chiquetto Paracatu
1 collaboration
Maleewan Kitcharoensakkul
1 collaboration
Magdalena A Walkiewicz
1 collaboration
Christopher D Putnam
1 collaboration
Marwan Shinawi
1 collaboration
Nermina Saucier
1 collaboration
Elise M Rizzi
1 collaboration
Michael T Harmon
1 collaboration
Molly P Keppel
1 collaboration
Michelle Ritter
1 collaboration
Morgan Similuk
1 collaboration
Elaine Kulm
1 collaboration
Michael Joyce
1 collaboration
Adriana A de Jesus
1 collaboration
Raphaela Goldbach-Mansky
1 collaboration
Yi-Shan Lee
1 collaboration
Marina Cella
1 collaboration
Peggy L Kendall
1 collaboration
Mary C Dinauer
1 collaboration
Jeffrey J Bednarski
1 collaboration
Christina Bemrich-Stolz
1 collaboration
Scott W Canna
1 collaboration
Shirley M Abraham
1 collaboration
Jonathan Powell
1 collaboration
Stacie M Jones
1 collaboration
Amy M Scurlock
1 collaboration
Suk See De Ravin
1 collaboration
Jack J Bleesing
1 collaboration
James A Connelly
1 collaboration
V Koneti Rao
1 collaboration
Laura G Schuettpelz
1 collaboration
Megan A Cooper
1 collaboration
Tullis T Liu
1 collaboration
Joseph A Napoli
1 collaboration
Parith Wongkittichote
1 collaboration
Cassandra Pantano
1 collaboration
Miao He
1 collaboration
Xinying Hong
1 collaboration