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Search Results - Olivos-Glander, I M
Search Results - Olivos-Glander, I M
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The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex
by
OLIVOS-GLANDER, I. M
,
JÄNNE, P. A
,
NUSSBAUM, R. L
Published in
American journal of human genetics
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Lowe Syndrome, a deficiency of a phosphatidyl-inositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus
by
Suchy, Sharon F.
,
Olivos-Glander, Isabelle M.
,
Nussbaum, Robert L.
Published in
Human molecular genetics
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Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells
by
Dressman, M A
,
Olivos-Glander, I M
,
Nussbaum, R L
,
Suchy, S F
Published in
The journal of histochemistry and cytochemistry
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Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus
by
Suchy, S F
,
Olivos-Glander, I M
,
Nussabaum, R L
Published in
Human molecular genetics
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Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome
by
Johnston, Jennifer J.
,
Olivos-Glander, Isabelle
,
Turner, Joyce
,
Aleck, Kyrieckos
,
Bird, Lynne M.
,
Mehta, Lakshmi
,
Schimke, R. Neil
,
Heilstedt, Heidi
,
Spence, J. Edward
,
Blancato, Jan
,
Biesecker, Leslie G.
Published in
American journal of medical genetics. Part A
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Ocrl1, a PtdIns(4,5)P2 5-Phosphatase, Is Localized to the Trans-Golgi Network of Fibroblasts and Epithelial Cells
by
Dressman, Marlene Armitage
,
Olivos-Glander, Isabelle M
,
Nussbaum, Robert L
,
Suchy, Sharon F
Published in
The journal of histochemistry and cytochemistry
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Recurrent cutaneous infections, hyperkeratosis, ichthyosis and deafness and a newly identified connexin 26 gene mutation A40V
by
Montgomery, Jay R
,
Martin, Bryan L
,
Olivos-Glander, Isabelle
,
Turner, Marie
,
Darnell, Dirk
,
Holland, Steven M
Published in
Journal of allergy and clinical immunology
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Molecular and clinical analyses of greig cephalopolysyndactyly and pallister-hall syndromes : Robust phenotype prediction from the type and position of GL13 mutations
by
JOHNSTON, Jennifer J
,
OLIVOS-GLANDER, Isabelle
,
BOOTH, Carol
,
CURRY, Cynthia J
,
DAVID, Albert
,
DINULOS, Mary Beth
,
FLANNERY, David B
,
FOX, Michelle A
,
GRAHAM, John M
,
GRANGE, Dorothy K
,
GUTTMACHER, Alan E
,
HANNIBAL, Mark C
,
KILLORAN, Christina
,
HENN, Wolfram
,
HENNEKAM, Raoul C. M
,
HOLMES, Lewis B
,
EUGENE HOYME, H
,
LEPPIG, Kathleen A
,
LIN, Angela E
,
MACLEOD, Patrick
,
MANCHESTER, David K
,
MARCELIS, Carlo
,
MAZZANTI, Laura
,
ELSON, Emma
,
MCCANN, Emma
,
MCDONALD, Marie T
,
MENDELSOHN, Nancy J
,
MOESCHLER, John B
,
MOGHADDAM, Billur
,
NERI, Giovanni
,
NEWBURY-ECOB, Ruth
,
PAGON, Roberta A
,
PHILLIPS, John A
,
SADLER, Laurie S
,
TURNER, Joyce T
,
STOLER, Joan M
,
TILSTRA, David
,
WALSH VOCKLEY, Catherine M
,
ZACKAI, Elaine H
,
ZADEH, Touran M
,
BRUETON, Louise
,
BLACK, Graeme Charles M
,
BIESECKER, Leslie G
,
PETERS, Kathryn F
,
ABBOTT, Margaret H
,
AUGHTON, David J
,
AYLSWORTH, Arthur S
,
BAMSHAD, Michael J
Published in
American journal of human genetics
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Ocrl1, a PtdIns(4,5)P 2 5-Phosphatase, Is Localized to the Trans -Golgi Network of Fibroblasts and Epithelial Cells
by
Dressman, Marlene Armitage
,
Olivos-Glander, Isabelle M.
,
Nussbaum, Robert L.
,
Suchy, Sharon F.
Published in
The journal of histochemistry and cytochemistry
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