Works by Lebel, Roger

Results: 23

SHORTER NOTICES.

Published in:

1978

By:

Moriarty, Frederick L.;
Boadt, Lawrence;
Huesman, John E.;
Greenwood, David;
Elliott, John H.;
Snell, Pricilla;
Surlis, Paul;
Hentz, Otto;
Saliba, John A.;
Ettlinger, Gerhard H.;
Kelly, Joseph F.;
Doyle, James J.;
Haught, John F.;
Murphy, Donald J.;
Lebel, Robert Roger;
La Barge, Joseph A.;
Genovesi, Vincent J.;
O'Connor, Francis M.;
Kress, Robert

Publication type:

Book Review

WHICH WAY FOR CATHOLIC PENTECOSTALS? (Book Review).

Published in:

1977

By:

Lebel, Robert Roger

Publication type:

Book Review

BIOETHICAL DECISION-MAKING (Book Review).

Published in:

1976

By:

Lebel, Robert Roger

Publication type:

Book Review

TOWARD THE FUTURE (Book Review).

Published in:

1975

By:

Lebel, Robert Roger

Publication type:

Book Review

Monosomy 10 Mosaicism as an Incidental Finding in Acute Lymphoblastic Leukemia.

Published in:

Pediatric Blood & Cancer, 2025, v. 72, n. 6, p. 1, doi. 10.1002/pbc.31681

By:

Curi, Dany Assaf;
Stein, Constance K.;
Lebel, Robert Roger;
Kennedy, Gloria A.

Publication type:

Article

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.

Published in:

Nature Genetics, 1999, v. 23, n. 3, p. 333, doi. 10.1038/15513

By:

Papadopoulou, Lefkothea C.;
Sue, Carolyn M.;
Davidson, Mercy M.;
Tanji, Kurenai;
Nishino, Ichizo;
Sadlock, James E.;
Krishna, Sindu;
Walker, Winsome;
Selby, Jeanette;
Glerum, D. Moira;
Coster, Rudy Van;
Lyon, Gilles;
Scalais, Emmanuel;
Lebel, Roger;
Kaplan, Paige;
Shanske, Sara;
De Vivo, Darryl C.;
Bonilla, Eduardo;
Hirano, Michio

Publication type:

Article

CASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patient.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63722

By:

Tellerday, Jack;
Black, Jennifer;
Schuessler, Donald C.;
Dosa, Nienke P.;
Alcaraz, Wendy;
Lebel, Robert Roger

Publication type:

Article

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.

Published in:

Human Mutation, 2016, v. 37, n. 4, p. 354, doi. 10.1002/humu.22952

By:

Isidor, Bertrand;
Küry, Sébastien;
Rosenfeld, Jill A.;
Besnard, Thomas;
Schmitt, Sébastien;
Joss, Shelagh;
Davies, Sally J;
Roger Lebel, Robert;
Henderson, Alex;
Schaaf, Christian P.;
Streff, Haley E.;
Yang, Yaping;
Jain, Vani;
Chida, Nodoka;
Latypova, Xenia;
Caignec, Cédric Le;
Cogné, Benjamin;
Mercier, Sandra;
Vincent, Marie;
Colin, Estelle

Publication type:

Article

Fisher-Mendel data.

Published in:

Journal of Heredity, 1987, v. 78, n. 5, p. 344, doi. 10.1093/oxfordjournals.jhered.a110411

By:

LEBEL, ROBERT ROGER

Publication type:

Article

A Response to Sacred Cells?

Published in:

2011

By:

Lebel, Robert Roger

Publication type:

Book Review

Gender: Genetics, Genitality, Generosity (Grace), Gentility.

Published in:

Theology & Science, 2011, v. 9, n. 4, p. 435, doi. 10.1080/14746700.2011.616017

By:

Lebel, Robert Roger

Publication type:

Article

Incidence of abdominal wall defects.

Published in:

Prenatal Diagnosis, 1999, v. 19, n. 7, p. 690, doi. 10.1002/(SICI)1097-0223(199907)19:7<690::AID-PD598>3.0.CO;2-X

By:

Lebel, Robert Roger

Publication type:

Article

Central and peripheral dysmyelination in a 3‐year‐old girl with ring chromosome 18.

Published in:

Clinical Case Reports, 2019, v. 7, n. 11, p. 2087, doi. 10.1002/ccr3.2426

By:

Lammert, Dawn Brianna;
Miedema, David;
Ochotorena, Josiree;
Dosa, Nienke;
Petropoulou, Kalliopi;
Lebel, Roger Robert;
Sakonju, Ai

Publication type:

Article

45,X/46,XX/47,XXX phenotype.

Published in:

Prenatal Diagnosis, 1993, v. 13, n. 12, p. 1165, doi. 10.1002/pd.1970131219

By:

Lebel, Robert Roger;
Elejalde, B. Rafael;
De Elejalde, Maria Mercedes;
Avila, Teresita

Publication type:

Article

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 259, doi. 10.1111/cge.13874

By:

Jacobs, Eva Z.;
Brown, Kathleen;
Byler, Melissa C.;
D'haenens, Erika;
Dheedene, Annelies;
Henderson, Lindsay B.;
Humberson, Jennifer B.;
Jaarsveld, Richard H.;
Kanani, Farah;
Lebel, Robert Roger;
Millan, Francisca;
Oegema, Renske;
Oostra, Ann;
Parker, Michael J.;
Rhodes, Lindsay;
Saenz, Margarita;
Seaver, Laurie H.;
Si, Yue;
Vanlander, Arnaud;
Vergult, Sarah

Publication type:

Article

A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 594, doi. 10.1038/ejhg.2013.207

By:

Leroy, Jules G;
Sillence, David;
Wood, Tim;
Barnes, Jarrod;
Lebel, Robert Roger;
Friez, Michael J;
Stevenson, Roger E;
Steet, Richard;
Cathey, Sara S

Publication type:

Article

Diagnosis of twin to twin transfusion syndrome at 18 weeks of gestation.

Published in:

1983

By:

Elejalde, B. Rafael;
de Elejalde, Maria Mercedes;
Wagner, Alan M.;
Lebel, Robert Roger;
Elejalde, B R;
Mercedes de Elejalde, M;
Wagner, A M;
Lebel, R R

Publication type:

journal article

Gastrointestinal Manifestations in Diploid/Triploid Mixoploidy.

Published in:

Journal of Pediatric Gastroenterology & Nutrition, 2015, v. 60, n. 6, p. 799, doi. 10.1097/MPG.0000000000000622

By:

Lalani, Farida K.;
Elsner, Garrett L.;
Lebel, Robert Roger;
Beg, Mirza B.

Publication type:

Article

PRENATAL DIAGNOSTIC ACCURACY IN SOUTH CAROLINA DEMONSTRATED BY AUTOPSY.

Published in:

Fetal & Pediatric Pathology, 2009, v. 28, n. 6, p. 253, doi. 10.1080/15513810903202737

By:

Lebel, Robert Roger;
Avery, Jennifer M.;
Broome, Patti J.;
Collins, Julianne S.

Publication type:

Article

FETAL PERITONITIS DUE TO APPENDICEAL RUPTURE: A RARE COMPLICATION OF HYDROPS.

Published in:

Fetal & Pediatric Pathology, 2008, v. 27, n. 3, p. 121, doi. 10.1080/15513810802077495

By:

Lebel, Robert Roger;
Avery, Jennifer M.;
Broome, Patti J.;
Gregg, Anthony R.;
Alan, Carol;
Mostafa, Mahmoud

Publication type:

Article

Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1663, doi. 10.1002/ajmg.a.38204

By:

Gilman, Jordana L.;
Newman, Heather A.;
Freeman, Rebecca;
Singh, Kathryn E.;
Puckett, Rebecca L.;
Morohashi, David K.;
Stein, Constance;
Palomino, Kathryn;
Lebel, Robert Roger;
Kimonis, Virginia E.

Publication type:

Article

Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1336, doi. 10.1002/ajmg.a.34049

By:

Burkardt, Deepika D'Cunha;
Rosenfeld, Jill A.;
Helgeson, Maria L.;
Angle, Brad;
Banks, Valerie;
Smith, Wendy E.;
Gripp, Karen W.;
Moline, Jessica;
Moran, Rocio T.;
Niyazov, Dmitriy M.;
Stevens, Cathy A.;
Zackai, Elaine;
Lebel, Robert Roger;
Ashley, Douglas G.;
Kramer, Nancy;
Lachman, Ralph S.;
Graham, John M.

Publication type:

Article

Aberrant Nuclear Projections of Neutrophils in Trisomy 13.

Published in:

Archives of Pathology & Laboratory Medicine, 2004, v. 128, n. 2, p. 243, doi. 10.5858/2004-128-243-anponi

By:

Salama, Mohamed E.;
Shah, Veena;
Lebel, Robert Roger;
VanDyke, Daniel L.

Publication type:

Article