R. Pauli
发表
S. Robertson,
M. Simpson,
R. Trembath,
2011,
Nature Genetics.
R. Weksberg,
D. Chitayat,
J. Squire,
2001,
Genomics.
R. Pauli,
2016,
American journal of medical genetics. Part A.
J. V. Hoeve,
I. Glass,
R. Pauli,
2004,
American journal of medical genetics. Part A.
G. Mortier,
R. Tenconi,
S. Mrusek,
2012,
American journal of medical genetics. Part C, Seminars in medical genetics.
R. Pauli,
S. Izumo,
L. Cripe,
1999,
American journal of medical genetics.
G. Raca,
R. Pauli,
P. Modaff,
2009,
American journal of medical genetics. Part A.
R. Pauli,
J. Eickhoff,
P. Modaff,
2020,
American journal of medical genetics. Part A.
R. Pauli,
S. Kirkpatrick,
1998,
American journal of medical genetics.
R. Pauli,
W. Dobyns,
F. Greenberg,
1986,
American journal of medical genetics.
R. Pauli,
J. Hoover-Fong,
J. Hecht,
2021,
Orphanet Journal of Rare Diseases.
R. Pauli,
J. Brazy,
P. Pryde,
2002,
American journal of medical genetics.
R. Pauli,
R. Laxová,
R. Lebovitz,
1984,
American journal of diseases of children.
R. Pauli,
P. Modaff,
J. Legare,
2018,
Molecular Syndromology.
R. Pauli,
P. Modaff,
Samuel P. Strom,
2018,
American journal of medical genetics. Part A.
A. Guttmacher,
L. Biesecker,
J. Graham,
2001,
Human Genetics.
R. Pauli,
D. Johnston,
J. Hecht,
1995,
American journal of medical genetics.
Marc S. Williams,
E. Zackai,
W. Newman,
2003,
American journal of medical genetics. Part A.
R. Pauli,
Mager,
Dixie,
2020,
Definitions.
D. J. Driscoll,
S. Schwartz,
C. Williams,
1997,
American journal of medical genetics.
R. Weksberg,
R. Pauli,
S. Kirkpatrick,
2008,
American journal of medical genetics. Part A.
C. Strom,
R. Pauli,
C. E. Eng,
1985,
Proceedings of the National Academy of Sciences of the United States of America.
R. Pauli,
P. Modaff,
J. Hyland,
2010,
American journal of medical genetics. Part A.
R. Pauli,
P. Modaff,
K. Panzer,
2008,
American journal of medical genetics. Part A.
R. Pauli,
R. Laxová,
C. Schultz,
1999,
American journal of medical genetics.
P. Giampietro,
R. Pauli,
N. Ghebranious,
2006,
American Journal of Medical Genetics. Part A.
R. Huddart,
R. Pauli,
R. Laxová,
1999,
American journal of medical genetics.
A. Schäffer,
E. Puffenberger,
D. Kwiatkowski,
1997,
American journal of human genetics.
E. Hoffman,
C. Mariani,
E. Farina,
1999,
Neurology.
R. Pauli,
W. Culpepper,
J. Madden,
1976,
The Journal of pediatrics.
P. Giampietro,
O. Boachie-Adjei,
R. Pauli,
2007,
Scoliosis.
M. Grafe,
J. Gardosi,
U. Reddy,
2009,
Obstetrics and gynecology.
G. Schellenberg,
E. Wijsman,
E. Puffenberger,
1993,
American journal of human genetics.
J. Lian,
R. Pauli,
D. Mosher,
1987,
American journal of human genetics.
R. Pauli,
M. Williams,
B. Rooney,
1994,
American journal of medical genetics.
R. Pauli,
M. Friez,
N. Elçioglu,
2019,
Clinical dysmorphology.
R. Pauli,
B. Pletcher,
D. Wargowski,
1999,
American journal of medical genetics.
R. Pauli,
J. Hoover-Fong,
J. Hecht,
2021,
Genetics in Medicine.
C. Mathew,
A. Veerman,
R. Gibson,
1997,
European journal of human genetics : EJHG.
R. Pauli,
J. Hoover-Fong,
J. Hecht,
2021,
Orphanet Journal of Rare Diseases.
R. Pauli,
P. Modaff,
Kimberly E Dessoffy,
2014,
American journal of medical genetics. Part A.
R. Pauli,
2010,
Clinical obstetrics and gynecology.
R. Pauli,
L. Botto,
2020,
Cassidy and Allanson's Management of Genetic Syndromes.
R. Pauli,
1988,
Pathology and immunopathology research.
R. Pauli,
K. Byerly,
1993,
American journal of medical genetics.
J. Graham,
R. Pyeritz,
R. Pauli,
1991,
American journal of human genetics.
R. Pauli,
2019,
Orphanet Journal of Rare Diseases.
J. Opitz,
R. Pauli,
M. Williams,
2001,
American journal of medical genetics.
R. Pauli,
M. Whyte,
P. Modaff,
1999,
American journal of medical genetics.
R. Pauli,
P. Modaff,
B. Iskandar,
2016,
American journal of medical genetics. Part A.
R. Pauli,
2007,
American journal of medical genetics. Part C, Seminars in medical genetics.
R. Pauli,
S. Kirkpatrick,
R. Lebovitz,
1994,
American journal of medical genetics.
R. Pauli,
C. Harding,
D. Olson,
1997,
American journal of medical genetics.
R. Pauli,
P. Modaff,
Amy L White,
2003,
American journal of medical genetics. Part A.
R. Pauli,
C. Reiser,
V. K. Horton,
1995,
American journal of human genetics.
R. Pauli,
E. Gilbert,
1986,
The Journal of pediatrics.
C. Mehringer,
D. Rimoin,
R. Pauli,
1985,
American journal of medical genetics.
K. Jones,
D. Rimoin,
M. Partington,
1984,
The Journal of pediatrics.
R. Pauli,
J. Hall,
K. M. Wilson,
1980,
The American journal of medicine.
N. Brunetti‐Pierri,
J. Mulliken,
R. Pauli,
2013,
American journal of medical genetics. Part A.
R. Pauli,
1994,
American journal of medical genetics.
R. Pauli,
A. Hunter,
C. Scott,
1996,
American journal of medical genetics.
R. Pauli,
R. Pilarski,
W. Engber,
1985,
Journal of pediatric orthopedics.
R. Pauli,
A. Greenlaw,
1982,
American journal of medical genetics.
S. Mundlos,
W. Reardon,
R. Pauli,
2011
.
S. Mundlos,
W. Reardon,
R. Pauli,
2009,
Human mutation.
R. Pauli,
C. Harding,
C. Green,
1990,
Pediatric pulmonology.
R. Spritz,
R. Pauli,
M. Williams,
1997,
American journal of medical genetics.
E. Jabs,
D. Meyers,
R. Pauli,
1991,
Genomics.
R. Pauli,
M. Warman,
W. Hul,
1999,
Nature Genetics.
R. Pauli,
Scott T. Michalski,
J. Porter,
2002,
American journal of obstetrics and gynecology.
R. Pauli,
C. Reiser,
1994,
American journal of medical genetics.
H. Brunner,
L. Ala‐Kokko,
R. Pauli,
2000,
American journal of human genetics.
P. Giampietro,
O. Boachie-Adjei,
R. Pauli,
2008,
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
R S Kirby,
R. Pauli,
R. Kirby,
1987,
American journal of public health.
R. Pauli,
R. Kelley,
V. Pureza,
2003,
American journal of medical genetics. Part A.
R. Pauli,
P. Modaff,
V. K. Horton,
1996,
Prenatal diagnosis.
R. Pauli,
H. Luebke,
C. Reiser,
1990,
American journal of medical genetics.
R. Pauli,
R. Zeier,
G. Sekhon,
1987,
American journal of medical genetics.
H. Waterham,
R. Pauli,
Anthony D. Krentz,
2013,
American journal of medical genetics. Part A.
R. Pauli,
F. Beemer,
C. Haws,
1983,
American journal of medical genetics.
W. Reardon,
K. Devriendt,
O. Gabrielli,
1999,
American journal of human genetics.
L. Biesecker,
Y. Ning,
R. Pauli,
2000,
American journal of human genetics.
S. Mundlos,
G. Mortier,
Y. Crow,
2004,
American journal of human genetics.
C. Fauth,
R. Pauli,
A. Schinzel,
2006,
American journal of medical genetics. Part A.
A. N. Meyer,
D. Donoghue,
R. Pauli,
2020,
American journal of medical genetics. Part A.
R. Pauli,
A. Brennan,
Allison M. Brennan,
2001,
American journal of medical genetics.
R. Pauli,
R. Laxová,
C. Ludowese,
1993,
Teratology.
A. Moser,
D. Valle,
K. Doheny,
2014,
American journal of human genetics.
R. Pauli,
R. Laxová,
R. Lebovitz,
1984
.
H. Hoyme,
K. Jones,
R. Pauli,
1987,
Jornal de Pediatria.
A. Motulsky,
R. Pauli,
1981,
Journal of medical genetics.
A. Motulsky,
R. Pauli,
1981
.
D. Valle,
R. Pauli,
N. Sobreira,
2015,
American journal of medical genetics. Part A.
R. Pauli,
J. Hall,
J. Hall,
1980,
American journal of medical genetics.
R. Pauli,
A. Breed,
C. Reiser,
1997,
Journal of pediatric orthopedics.
R. Pauli,
J. Hall,
1980,
American journal of diseases of children.
J. Carey,
R. Pauli,
E. McPherson,
1987,
American journal of medical genetics.
R. Pauli,
W. Rehrauer,
M. Fritsch,
2008,
Pediatric and Developmental Pathology.
R. Pauli,
J. Hall,
C. Scott,
2004,
American journal of medical genetics. Part A.
R. Pauli,
L. Meisner,
R. J. Szmanda,
1983,
American journal of diseases of children.
R. Pauli,
L. Meisner,
S. Kirkpatrick,
1982,
Clinical genetics.
R. Pauli,
P. Modaff,
J. Legare,
2018,
American journal of medical genetics. Part A.
J. Graham,
R. Pauli,
M. Barr,
1981,
Teratology.
R. Pauli,
M. E. Peters,
C. Green,
1988,
Pediatric pulmonology.
D. David,
R. Pauli,
W. Perloff,
1990,
Plastic and reconstructive surgery.
G. Bresnick,
E. Gilbert-Barness,
R. Pauli,
1989,
American journal of medical genetics.
R. Pauli,
P. Feldman,
1986,
Teratology.
R. Pauli,
N. Williamson,
S. Tomc,
1990,
American journal of medical genetics.
V. Sutton,
M. Tartaglia,
R. Pauli,
2017,
American journal of human genetics.
R. Pauli,
C. Reiser,
V. K. Horton,
1997,
American journal of medical genetics.
R. Pauli,
1984,
Clinical genetics.
G. Bresnick,
R. Pauli,
J. Weinstein,
1989,
American journal of medical genetics.
R. Pauli,
1983,
American journal of medical genetics.
R. Pauli,
Maureen A. Flynn,
2003,
American journal of medical genetics. Part A.
R. Pauli,
P. Modaff,
1999,
International journal of pediatric otorhinolaryngology.
R. Pauli,
J. Hall,
C. Reiser,
1984,
American journal of medical genetics.
R. Spritz,
R. Pauli,
R. Laxová,
1986,
American journal of human genetics.
R. Pauli,
G. Sekhon,
Gurbax S. Sekhon,
1991,
Clinical genetics.
R. Pauli,
D. Drake,
H. Pavlov,
1990,
Radiology.
Ann Haskins Olney,
C. Stevens,
R. Pauli,
2000,
Genetics in Medicine.
R. Pauli,
P. Modaff,
J. Legare,
2021,
Acta paediatrica.
W. L. Robertson,
R. Pauli,
S. Kirkpatrick,
1992,
Teratology.
R. Pauli,
R. Laxová,
K. Wisniewski,
1992,
American journal of medical genetics.
R. Pauli,
H. Jüppner,
T. Gardella,
2018,
The Journal of clinical endocrinology and metabolism.
Gardella,
R. Pauli,
H. Jüppner,
2018
.
R. Pauli,
C. G. Palmer,
1988,
The Journal of pediatrics.
T. Richmond,
R. Pauli,
R. Selzer,
2006,
American journal of medical genetics. Part A.
P. M. Falk,
J. Murray,
R. Pauli,
1990
.
R. Pauli,
G. Tint,
M. Williams,
1997,
American journal of medical genetics.
R. Pauli,
2010
.
R. Pauli,
N. Sobreira,
M. Seong,
2015,
Human mutation.
T. Naidich,
R. Pauli,
L. Langer,
1983
.
R. Pauli,
R. Lebovitz,
R. Meyer,
1985,
Clinical genetics.
G. Bresnick,
R. Pauli,
Robert T. Pilarski,
1985,
Clinical genetics.
R. Pauli,
E. Gilbert,
S. Arya,
1983,
American journal of medical genetics.
R. Pauli,
E. McPherson,
J. Jung,
1983,
American journal of medical genetics.
R. Pauli,
J. Haun,
M. K. Koebert,
1993,
Reproductive Toxicology.
R. Pauli,
C. Zelop,
P. Pryde,
2003,
American journal of medical genetics. Part A.
Eric S. Fowler,
R. Pauli,
C. Reiser,
1997,
Journal of developmental and behavioral pediatrics : JDBP.
C. Strom,
R. Pauli,
T. Christides,
1985,
Pediatric Research.
R. Pauli,
P. Modaff,
K. Reynolds,
2001,
American journal of medical genetics.
R. Pauli,
P. Modaff,
J. Legare,
2020,
American journal of medical genetics. Part A.
R. Pauli,
P. Modaff,
J. Legare,
2020,
Orphanet Journal of Rare Diseases.
R. Pauli,
J. Hall,
K. M. Wilson,
1980,
American heart journal.
R. Pauli,
G. Leverson,
D. Heatley,
1999,
Otolaryngology Head & Neck Surgery.
R. Pauli,
J. Hoover-Fong,
J. Hecht,
2021,
American journal of medical genetics. Part A.
R. Pauli,
J. Hoover-Fong,
J. Hecht,
2018,
American journal of medical genetics. Part A.
R. Pauli,
J. Hoover-Fong,
P. Modaff,
2021,
Journal of neurosurgery. Pediatrics.
R. Pyeritz,
R. Pauli,
J. Moeschler,
1991
.
P. M. Falk,
P. Green,
M. Spence,
1990,
American journal of human genetics.
R. Pauli,
D. Waggoner,
N. Mendelsohn,
2010,
Surgery for obesity and related diseases : official journal of the American Society for Bariatric Surgery.
J. Weber,
P. Giampietro,
R. Pauli,
2005,
Clinical genetics.
S. Blanton,
R. Pauli,
J. Hecht,
1995,
American journal of human genetics.
R. Pauli,
J. Hoover-Fong,
J. Hecht,
2023,
Orphanet Journal of Rare Diseases.
V. Sutton,
M. Tartaglia,
R. Pauli,
2017,
American journal of human genetics.
M. Pandolfo,
R. Pauli,
C. Gallagher,
2002,
Journal of child neurology.
R. Pauli,
D. Tunkel,
J. Hoover-Fong,
2021,
The Laryngoscope.
R. Pauli,
N. Sobreira,
M. Seong,
2015,
Human mutation.