Developmental trajectories in 22q11.2 deletion syndrome von Swillen, Ann, McDonald-McGinn, Donna

Volltext

Genomic approaches for studying craniofacial disorders von Khandelwal, Kriti D, van Bokhoven, Hans, Roscioli, Tony, Carels, Carine, Zhou, Huiqing

Volltext

Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation von Wolfe, L.A, Morava, Eva, He, M, Vockley, J, Gibson, K.M

Volltext

Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3 von South, Sarah T, Hannes, Femke, Fisch, Gene S, Vermeesch, Joris, Zollino, Marcella

Volltext

Developmental Trajectories in Syndromes with Intellectual Disability, with a Focus on Wolf-Hirschhorn and Its Cognitive-Behavioral Profile von Fisch, Gene S, Carpenter, Nancy, Howard-Peebles, Patricia N, Holden, Jeanette J. A, Tarleton, Jack, Simensen, Richard, Battaglia, Agatino

Volltext

Nurses' competence in genetics: a mixed method systematic review von Skirton, Heather, O'Connor, Anita, Humphreys, Ann

Volltext

22q11.2 duplications in a UK cohort with bladder exstrophy–epispadias complex von Beaman, Glenda M., Woolf, Adrian S., Cervellione, Raimondo M., Keene, David, Mushtaq, Imran, Urquhart, Jill E., Stuart, Helen M., Newman, William G.

Volltext

Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF‐β, hedgehog, and FGF signal... von Roessler, Erich, Hu, Ping, Marino, Juliana, Hong, Sungkook, Hart, Rachel, Berger, Seth, Martinez, Ariel, Abe, Yu, Kruszka, Paul, Thomas, James W., Mullikin, James C., Wang, Yupeng, Wong, Wendy S.W., Niederhuber, John E., Solomon, Benjamin D., Richieri‐Costa, Antônio, Ribeiro‐Bicudo, L.A., Muenke, Maximilian

Volltext

Shifts in the genetic counseling workforce highlight a need for laboratory fieldwork experience for genetic counseling trainees von Hart, Tara R., Ahmed, Sohnee, Byrne, Robyn, Sulmonte, Laura Anne Goodell, Williams, Leah M., McWalter, Kirsty

Volltext

The roles of hedgehog signaling in upper lip formation von Kurosaka, Hiroshi

Volltext

Zygomatic implant survival in 9 ectodermal dysplasia patients with 3.5‐ to 7‐year follow‐up von Goker, Funda, Grecchi, Emma, Mancini, Evangelista Giovanni, Del Fabbro, Massimo, Grecchi, Francesco

Volltext

Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia von Dasa, Vinod, Eastwood, James R.B., Podgorski, Michal, Park, Heewon, Blackstock, Christopher, Antoshchenko, Tetyana, Rogala, Piotr, Bieganski, Tadeusz, Jazwinski, S. Michal, Czarny‐Ratajczak, Malwina

Volltext

Bridging autism, science and society: moving toward an ethically informed approach to autism research von Pellicano, Elizabeth, Stears, Marc

Volltext

Communication about positive BRCA1 and BRCA2 genetic test results and uptake of testing in relatives in a diverse Asian setting von Lee, Daphne S.‐C., Meiser, Bettina, Mariapun, Shivaani, Hassan, Tiara, Yip, Cheng‐Har, Mohd Taib, Nur A., Teo, Soo‐Hwang, Thong, Meow‐Keong, Yoon, Sook‐Yee

Volltext

Expanding the phenotype of cerebellar‐facial‐dental syndrome: Two siblings with a novel variant in BRF1 von Valenzuela, Irene, Codina, Marta, Fernández‐Álvarez, Paula, Mur, Pilar, Valle, Laura, Tizzano, Eduardo F., Cuscó, Ivon

Volltext

Employment in Adults with Down Syndrome in the United States: Results from a National Survey von Kumin, Libby, Schoenbrodt, Lisa

Volltext

Artificial intelligence in genetic services delivery: Utopia or apocalypse? von Kearney, Elizabeth, Wojcik, Antonina, Babu, Deepti

Volltext

A Neurogenetic Approach to Impulsivity von Congdon, Eliza, Canli, Turhan

Volltext

Evaluating parental genetic knowledge of hearing loss with and without pre‐test genetic counseling in a pediatric otolaryngology clinic von Davis, Dillon, Oakes, Lisa, Raol, Nikhila, Mighion, Lindsey, Dedhia, Kavita

Volltext

Intellectual, adaptive and behavioural characteristics in four patients with 18p deletion syndrome von Mello, C. B., Bueno, O. F. A., Benedetto, L. M., Pimenta, L. S. E., Takeno, S. S., Melaragno, M. I., Meloni, V. A.

Volltext