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High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. [electronic resource] by
- Aretz, Stefan
- Stienen, Dietlinde
- Uhlhaas, Siegfried
- Loff, Steffan
- Back, Walter
- Pagenstecher, Constanze
- McLeod, D Ross
- Graham, Gail E
- Mangold, Elisabeth
- Santer, René
- Propping, Peter
- Friedl, Waltraut
Producer: 20060613
In:
Human mutation vol. 26
Availability: No items available.
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10.
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Autosomal recessive cerebellar hypoplasia in the Hutterite population. [electronic resource] by
- Glass, Hannah C
- Boycott, Kym M
- Adams, Coleen
- Barlow, Karen
- Scott, James N
- Chudley, Albert E
- Fujiwara, T Mary
- Morgan, Kenneth
- Wirrell, Elaine
- McLeod, D Ross
Producer: 20051101
In:
Developmental medicine and child neurology vol. 47
Availability: No items available.
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11.
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Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. [electronic resource] by
- Williams, Stephen R
- Aldred, Micheala A
- Der Kaloustian, Vazken M
- Halal, Fahed
- Gowans, Gordon
- McLeod, D Ross
- Zondag, Sara
- Toriello, Helga V
- Magenis, R Ellen
- Elsea, Sarah H
Producer: 20100901
In:
American journal of human genetics vol. 87
Availability: No items available.
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12.
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Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. [electronic resource] by
- Boycott, Kym M
- Flavelle, Shauna
- Bureau, Alexandre
- Glass, Hannah C
- Fujiwara, T Mary
- Wirrell, Elaine
- Davey, Krista
- Chudley, Albert E
- Scott, James N
- McLeod, D Ross
- Parboosingh, Jillian S
Producer: 20060206
In:
American journal of human genetics vol. 77
Availability: No items available.
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13.
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A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America. [electronic resource] by
- Loucks, Catrina
- Parboosingh, Jillian S
- Chong, Jessica X
- Ober, Carole
- Siu, Victoria M
- Hegele, Robert A
- Rupar, C Anthony
- McLeod, D Ross
- Pinto, Alfredo
- Chudley, Albert E
- Innes, A Micheil
Producer: 20121026
In:
American journal of medical genetics. Part A vol. 158A
Availability: No items available.
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14.
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Clinical genetics and the Hutterite population: a review of Mendelian disorders. [electronic resource] by
- Boycott, Kym M
- Parboosingh, Jillian S
- Chodirker, Bernie N
- Lowry, R Brian
- McLeod, D Ross
- Morris, Jackie
- Greenberg, Cheryl R
- Chudley, Albert E
- Bernier, Francois P
- Midgley, Julian
- Møller, Lisbeth Birk
- Innes, A Micheil
Producer: 20080429
In:
American journal of medical genetics. Part A vol. 146A
Availability: No items available.
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15.
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Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. [electronic resource] by
- Loucks, Catrina M
- Parboosingh, Jillian S
- Shaheen, Ranad
- Bernier, Francois P
- McLeod, D Ross
- Seidahmed, Mohammed Z
- Puffenberger, Erik G
- Ober, Carole
- Hegele, Robert A
- Boycott, Kym M
- Alkuraya, Fowzan S
- Innes, A Micheil
Producer: 20160629
In:
Human mutation vol. 36
Availability: No items available.
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16.
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Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome. [electronic resource] by
- Boycott, Kym M
- Parboosingh, Jillian S
- Scott, James N
- McLeod, D Ross
- Greenberg, Cheryl R
- Fujiwara, T Mary
- Mah, Jean K
- Midgley, Julian
- Wade, Andrew
- Bernier, Francois P
- Chodirker, Bernard N
- Bunge, Martin
- Innes, A Micheil
Producer: 20080116
In:
American journal of medical genetics. Part A vol. 143A
Availability: No items available.
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17.
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Intellectual disability associated with a homozygous missense mutation in THOC6. [electronic resource] by
- Beaulieu, Chandree L
- Huang, Lijia
- Innes, A Micheil
- Akimenko, Marie-Andree
- Puffenberger, Erik G
- Schwartz, Charles
- Jerry, Paul
- Ober, Carole
- Hegele, Robert A
- McLeod, D Ross
- Schwartzentruber, Jeremy
- Majewski, Jacek
- Bulman, Dennis E
- Parboosingh, Jillian S
- Boycott, Kym M
Producer: 20150330
In:
Orphanet journal of rare diseases vol. 8
Availability: No items available.
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18.
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Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome. [electronic resource] by
- Lynch, Danielle C
- Revil, Timothée
- Schwartzentruber, Jeremy
- Bhoj, Elizabeth J
- Innes, A Micheil
- Lamont, Ryan E
- Lemire, Edmond G
- Chodirker, Bernard N
- Taylor, Juliet P
- Zackai, Elaine H
- McLeod, D Ross
- Kirk, Edwin P
- Hoover-Fong, Julie
- Fleming, Leah
- Savarirayan, Ravi
- Majewski, Jacek
- Jerome-Majewska, Loydie A
- Parboosingh, Jillian S
- Bernier, Francois P
Producer: 20160426
In:
Nature communications vol. 5
Availability: No items available.
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19.
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Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8. [electronic resource] by
- Boycott, Kym M
- Beaulieu, Chandree L
- Kernohan, Kristin D
- Gebril, Ola H
- Mhanni, Aziz
- Chudley, Albert E
- Redl, David
- Qin, Wen
- Hampson, Sarah
- Küry, Sébastien
- Tetreault, Martine
- Puffenberger, Erik G
- Scott, James N
- Bezieau, Stéphane
- Reis, André
- Uebe, Steffen
- Schumacher, Johannes
- Hegele, Robert A
- McLeod, D Ross
- Gálvez-Peralta, Marina
- Majewski, Jacek
- Ramaekers, Vincent T
- Nebert, Daniel W
- Innes, A Micheil
- Parboosingh, Jillian S
- Abou Jamra, Rami
Producer: 20160322
In:
American journal of human genetics vol. 97
Availability: No items available.
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20.
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Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. [electronic resource] by
- Boerkoel, Cornelius F
- Takashima, Hiroshi
- John, Joy
- Yan, Jiong
- Stankiewicz, Pawel
- Rosenbarker, Lisa
- André, Jean-Luc
- Bogdanovic, Radovan
- Burguet, Antoine
- Cockfield, Sandra
- Cordeiro, Isabel
- Fründ, Stefan
- Illies, Friederike
- Joseph, Mark
- Kaitila, Ilkka
- Lama, Giuliana
- Loirat, Chantal
- McLeod, D Ross
- Milford, David V
- Petty, Elizabeth M
- Rodrigo, Francisco
- Saraiva, Jorge M
- Schmidt, Beate
- Smith, Graham C
- Spranger, Jürgen
- Stein, Anja
- Thiele, Hannelore
- Tizard, Jane
- Weksberg, Rosanna
- Lupski, James R
- Stockton, David W
Producer: 20020306
In:
Nature genetics vol. 30
Availability: No items available.
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