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Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22.
12 auth.
E. Puffenberger,
Erick R.Kauffman,
S. Bolk,
T. Matise,
S. S. Washington,
M. Angrist,
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M. J. Mascari,
R. Ladda,
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7 |
1994 |
7
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The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.
9 auth.
M. J. Mascari,
W. Gottlieb,
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R. Nicholls
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7 |
1992 |
7
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Hereditary Factors in Sleepwalking and Night Terrors
7 auth.
A. Kales,
C. Soldatos,
E. Bixler,
R. Ladda,
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P. Schweitzer
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7 |
1980 |
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The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease
9 auth.
S. Banugaria,
Sean N. Prater,
Y. Ng,
J. Kobori,
R. Finkel,
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Yuan-Tsong Chen,
A. Rosenberg,
P. Kishnani
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7 |
2011 |
7
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250 INDUCTION OF COLLAGENASE SECRETION IN HUMAN FIBROBLAST CULTURES BY GROWTH PROMOTING FACTORS
C. C. Chua,
D. Geiman,
G. Keller,
R. Ladda
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7 |
1985 |
7
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Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
63 auth.
G. Beunders,
E. Voorhoeve,
C. Golzio,
L. Pardo,
J. Rosenfeld,
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R. Pyatt,
J. M. van de Kamp,
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M. Weiss,
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Yongguo Yu,
Colby Chiang,
J. Gusella,
Amelia M. Lindgren,
C. Morton,
E. van Binsbergen,
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Els van Rossem,
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2013 |
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Penetration of Erythrocytes by Merozoites of Mammalian and Avian Malarial Parasites*
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M. Aikawa,
H. Sprinz
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7 |
2001 |
7
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Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
17 auth.
M. O'Driscoll,
Sarah B. Daly,
J. Urquhart,
G. Black,
D. Pilz,
K. Brockmann,
M. McEntagart,
G. Abdel-Salam,
M. Zaki,
N. Wolf,
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7 |
2010 |
7
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High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44
30 auth.
B. Ballif,
J. Rosenfeld,
Ryan N. Traylor,
A. Theisen,
P. Bader,
R. Ladda,
S. Sell,
M. Steinraths,
U. Surti,
Marianne Mcguire,
Shelley Williams,
S. Farrell,
J. Filiano,
R. Schnur,
L.B. Coffey,
...
R. Tervo,
Tracy Stroud,
M. Marble,
M. Netzloff,
Kristen Hanson,
A. Aylsworth,
J. Bamforth,
Deepti Babu,
D. Niyazov,
J. B. Ravnan,
R. Schultz,
A. Lamb,
B. Torchia,
B. Bejjani,
L. Shaffer
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6 |
2011 |
6
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Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features
43 auth.
A. Lamb,
J. Rosenfeld,
N. Neill,
M. Talkowski,
Ian Blumenthal,
S. Girirajan,
Debra J Keelean-Fuller,
Zheng Fan,
Jill Pouncey,
C. Stevens,
Loren Mackay-Loder,
D. Terespolsky,
P. Bader,
K. Rosenbaum,
Stephanie E. Vallee,
...
J. Moeschler,
R. Ladda,
S. Sell,
Judith A. Martin,
Shawnia Ryan,
Marilyn C. Jones,
R. Moran,
A. Shealy,
Suneeta Madan‐Khetarpal,
Juliann S McConnell,
U. Surti,
A. Delahaye,
B. Héron‐Longe,
E. Pipiras,
B. Benzacken,
S. Passemard,
A. Verloes,
B. Isidor,
C. Le Caignec,
Gwen M. Glew,
K. Opheim,
M. Descartes,
E. Eichler,
Cynthia C. Morton,
J. Gusella,
R. Schultz,
B. Ballif,
L. Shaffer
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6 |
2012 |
6
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