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Two Novel Pathogenic [electronic resource] by
- Maia, Nuno
- Nabais Sá, Maria J
- Tkachenko, Nataliya
- Soares, Gabriela
- Marques, Isabel
- Rodrigues, Bárbara
- Fortuna, Ana M
- Santos, Rosário
- de Brouwer, Arjan P M
- Jorge, Paula
Publication details: Molecular syndromology Dec 2017
In:
Molecular syndromology vol. 9
Availability: No items available.
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De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders. [electronic resource] by
- Nabais Sá, Maria J
- El Tekle, Geniver
- de Brouwer, Arjan P M
- Sawyer, Sarah L
- Del Gaudio, Daniela
- Parker, Michael J
- Kanani, Farah
- van den Boogaard, Marie-José H
- van Gassen, Koen
- Van Allen, Margot I
- Wierenga, Klaas
- Purcarin, Gabriela
- Elias, Ellen Roy
- Begtrup, Amber
- Keller-Ramey, Jennifer
- Bernasocchi, Tiziano
- van de Wiel, Laurens
- Gilissen, Christian
- Venselaar, Hanka
- Pfundt, Rolph
- Vissers, Lisenka E L M
- Theurillat, Jean-Philippe P
- de Vries, Bert B A
Producer: 20200505
In:
American journal of human genetics vol. 106
Availability: No items available.
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De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy. [electronic resource] by
- Nabais Sá, Maria J
- Venselaar, Hanka
- Wiel, Laurens
- Trimouille, Aurélien
- Lasseaux, Eulalie
- Naudion, Sophie
- Lacombe, Didier
- Piton, Amélie
- Vincent-Delorme, Catherine
- Zweier, Christiane
- Reis, André
- Trollmann, Regina
- Ruiz, Anna
- Gabau, Elisabeth
- Vetro, Annalisa
- Guerrini, Renzo
- Bakhtiari, Somayeh
- Kruer, Michael C
- Amor, David J
- Cooper, Monica S
- Bijlsma, Emilia K
- Barakat, Tahsin Stefan
- van Dooren, Marieke F
- van Slegtenhorst, Marjon
- Pfundt, Rolph
- Gilissen, Christian
- Willemsen, Michèl A
- de Vries, Bert B A
- de Brouwer, Arjan P M
- Koolen, David A
Producer: 20210427
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 22
Availability: No items available.
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7.
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De novo and biallelic DEAF1 variants cause a phenotypic spectrum. [electronic resource] by
- Nabais Sá, Maria J
- Jensik, Philip J
- McGee, Stacey R
- Parker, Michael J
- Lahiri, Nayana
- McNeil, Evan P
- Kroes, Hester Y
- Hagerman, Randi J
- Harrison, Rachel E
- Montgomery, Tara
- Splitt, Miranda
- Palmer, Elizabeth E
- Sachdev, Rani K
- Mefford, Heather C
- Scott, Abbey A
- Martinez-Agosto, Julian A
- Lorenz, Rüdiger
- Orenstein, Naama
- Berg, Jonathan N
- Amiel, Jeanne
- Heron, Delphine
- Keren, Boris
- Cobben, Jan-Maarten
- Menke, Leonie A
- Marco, Elysa J
- Graham, John M
- Pierson, Tyler Mark
- Karimiani, Ehsan Ghayoor
- Maroofian, Reza
- Manzini, M Chiara
- Cauley, Edmund S
- Colombo, Roberto
- Odent, Sylvie
- Dubourg, Christele
- Phornphutkul, Chanika
- de Brouwer, Arjan P M
- de Vries, Bert B A
- Vulto-vanSilfhout, Anneke T
Producer: 20200204
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 21
Availability: No items available.
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