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Growth charts for children with Ellis-van Creveld syndrome.
Published in:
2011
By:
- Verbeek, Sabine;
- Eilers, Paul H. C.;
- Lawrence, Kate;
- Hennekam, Raoul C. M.;
- Versteegh, Florens G. A.
Publication type:
journal article
Partial deletion of 18p and partial duplication of 18q caused by a paternal pericentric inversion.
Published in:
Clinical Genetics, 1996, v. 50, n. 6, p. 520, doi. 10.1111/j.1399-0004.1996.tb02726.x
By:
- Israëls, Trijn;
- Hoovers, Jan;
- Turpijn, Hanne M.;
- Wijburg, Frits A.;
- Hennekam, Raoul C. M.
Publication type:
Article
Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay.
Published in:
Clinical Genetics, 1996, v. 49, n. 1, p. 42, doi. 10.1111/j.1399-0004.1996.tb04323.x
By:
- Aalfs, Cora M.;
- Jacobs, Marja E.;
- Nieste-Otter, Marlëlle A.;
- Hennekam, Raoul C. M.;
- Hoovers, Jan M. N.
Publication type:
Article
Haspeslagh syndrome without severe mental retardation and pterygia?
Published in:
Clinical Genetics, 1995, v. 47, n. 5, p. 263, doi. 10.1111/j.1399-0004.1995.tb04308.x
By:
- Bever, Yolande;
- Hennekam, Raoul C. M.
Publication type:
Article
Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.
Published in:
2016
By:
- de Winter, Channa F.;
- Baas, Melanie;
- Bijlsma, Emilia K.;
- van Heukelingen, John;
- Routledge, Sue;
- Hennekam, Raoul C. M.
Publication type:
journal article
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.
Published in:
Journal of Human Genetics, 2010, v. 55, n. 12, p. 801, doi. 10.1038/jhg.2010.116
By:
- Komatsuzaki, Shoko;
- Aoki, Yoko;
- Niihori, Tetsuya;
- Okamoto, Nobuhiko;
- Hennekam, Raoul C M;
- Hopman, Saskia;
- Ohashi, Hirofumi;
- Mizuno, Seiji;
- Watanabe, Yoriko;
- Kamasaki, Hotaka;
- Kondo, Ikuko;
- Moriyama, Nobuko;
- Kurosawa, Kenji;
- Kawame, Hiroshi;
- Okuyama, Ryuhei;
- Imaizumi, Masue;
- Rikiishi, Takeshi;
- Tsuchiya, Shigeru;
- Kure, Shigeo;
- Matsubara, Yoichi
Publication type:
Article
Paediatric biobanking: Dutch experts reflecting on appropriate legal standards for practice.
Published in:
2017
By:
- Kranendonk, Elcke;
- Hennekam, Raoul;
- Ploem, M.;
- Kranendonk, Elcke J;
- Hennekam, Raoul C;
- Ploem, M Corrette
Publication type:
journal article
Variants in nuclear factor I genes influence growth and development.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 611, doi. 10.1002/ajmg.c.31747
By:
- Zenker, Martin;
- Bunt, Jens;
- Schanze, Ina;
- Schanze, Denny;
- Piper, Michael;
- Priolo, Manuela;
- Gerkes, Erica H.;
- Gronostajski, Richard M.;
- Richards, Linda J.;
- Vogt, Julie;
- Wessels, Marja W.;
- Hennekam, Raoul C.
Publication type:
Article
DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 3, p. 327, doi. 10.1002/ajmg.c.31412
By:
- Campeau, Philippe M.;
- Hennekam, Raoul C.
Publication type:
Article
Phenotype and genotype in Nicolaides-Baraitser syndrome.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 3, p. 302, doi. 10.1002/ajmg.c.31409
By:
- Sousa, Sérgio B.;
- Hennekam, Raoul C.
Publication type:
Article
5p13 microduplication in a malformed fetus and his unaffected father.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 370, doi. 10.1002/ajmg.a.63030
By:
- Kariminejad, Ariana;
- Ghaderi‐Sohi, Siavash;
- Gholami, Soheila;
- Najafi, Kimia;
- Kariminejad, Roxana;
- Hennekam, Raoul C. M.
Publication type:
Article
Cornelia de Lange syndrome and cancer: An open question.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 292, doi. 10.1002/ajmg.a.62992
By:
- Pallotta, Maria M.;
- Di Nardo, Maddalena;
- Hennekam, Raoul C. M.;
- Kaiser, Frank J.;
- Parenti, Ilaria;
- Pié, Juan;
- Ramos, Feliciano J.;
- Kline, Antonie D.;
- Musio, Antonio
Publication type:
Article
Elements of morphology: Standard terminology for the trunk and limbs.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3191, doi. 10.1002/ajmg.a.62965
By:
- Biesecker, Leslie G.;
- Adam, Margaret P.;
- Chung, Brian Hon‐Yin;
- Kosaki, Kenjiro;
- Menke, Leonie A.;
- White, Susan M.;
- Carey, John C.;
- Hennekam, Raoul C. M.
Publication type:
Article
Genetic control of tumor development in malformation syndromes.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 324, doi. 10.1002/ajmg.a.61947
By:
- Postema, Floor A.M.;
- Oosterwijk, Jan C.;
- Hennekam, Raoul C.
Publication type:
Article
Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 1913, doi. 10.1002/ajmg.a.61316
By:
- Dure‐Molla, Muriel;
- Fournier, Benjamin Philippe;
- Manzanares, Maria Cristina;
- Acevedo, Ana Carolina;
- Hennekam, Raoul C.;
- Friedlander, Lisa;
- Boy‐Lefèvre, Marie‐Laure;
- Kerner, Stephane;
- Toupenay, Steve;
- Garrec, Pascal;
- Vi‐Fane, Brigite;
- Felizardo, Rufino;
- Berteretche, Marie‐Violaine;
- Jordan, Laurence;
- Ferré, François;
- Clauss, François;
- Jung, Sophie;
- Chalendar, Myriam;
- Troester, Sebastien;
- Kawczynski, Marzena
Publication type:
Article
Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1547, doi. 10.1002/ajmg.a.61260
By:
- Kariminejad, Ariana;
- Vahidnezhad, Hassan;
- Ghaderi‐Sohi, Siavash;
- Ghannadan, Ali R.;
- Youssefian, Leila;
- Parsimehr, Elham;
- Faraji Zonooz, Mehrshid;
- Kariminejad, Mohammad H.;
- Uitto, Jouni;
- Najmabadi, Hossein;
- Hennekam, Raoul C.
Publication type:
Article
Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 634, doi. 10.1002/ajmg.a.61052
By:
- Angius, Andrea;
- Uva, Paolo;
- Oppo, Manuela;
- Persico, Ivana;
- Onano, Stefano;
- Olla, Stefania;
- Pes, Valentina;
- Perria, Chiara;
- Cuccuru, Gianmauro;
- Atzeni, Rossano;
- Serra, Gigliola;
- Cucca, Francesco;
- Sotgiu, Stefano;
- Hennekam, Raoul C.;
- Crisponi, Laura
Publication type:
Article
A novel ASPH variant extends the phenotype of Shawaf‐Traboulsi syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2494, doi. 10.1002/ajmg.a.40508
By:
- Abarca Barriga, Hugo H.;
- Caballero, Nathaly;
- Trubnykova, Milana;
- Castro‐Mujica, María del Carmen;
- La Serna‐Infantes, Jorge E.;
- Vásquez, Flor;
- Hennekam, Raoul C.
Publication type:
Article
A novel mutation in CDH11, encoding cadherin‐11, cause Branchioskeletogenital (Elsahy‐Waters) syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 2028, doi. 10.1002/ajmg.a.40379
By:
- Castori, Marco;
- Ott, Claus‐Eric;
- Bisceglia, Luigi;
- Leone, Maria Pia;
- Mazza, Tommaso;
- Castellana, Stefano;
- Tomassi, Jurgen;
- Lanciotti, Silvia;
- Mundlos, Stefan;
- Hennekam, Raoul C.;
- Kornak, Uwe;
- Brancati, Francesco
Publication type:
Article
M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937–2018).
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1703, doi. 10.1002/ajmg.a.38845
By:
- Carey, John C.;
- Hennekam, Raoul C. M.;
- Lin, Angela E.;
- Barr, Jr., Mason
Publication type:
Article
Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1166, doi. 10.1002/ajmg.a.38652
By:
- Ivanovski, Ivan;
- Akbaroghli, Susan;
- Pollazzon, Marzia;
- Gelmini, Chiara;
- Caraffi, Stefano Giuseppe;
- Mansouri, Mahboubeh;
- Chavoshzadeh, Zahra;
- Rosato, Simonetta;
- Polizzi, Valeria;
- Gargano, Giancarlo;
- Alders, Marielle;
- Garavelli, Livia;
- Hennekam, Raoul C.
Publication type:
Article
Benign and malignant tumors in Rubinstein–Taybi syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 597, doi. 10.1002/ajmg.a.38603
By:
- Boot, Max V.;
- van Belzen, Martine J.;
- Overbeek, Lucy I.;
- Hijmering, Nathalie;
- Mendeville, Matias;
- Waisfisz, Quinten;
- Wesseling, Pieter;
- Hennekam, Raoul C.;
- de Jong, Daphne
Publication type:
Article
Variants in KAT6A and pituitary anomalies.
Published in:
2017
By:
- Zwaveling‐Soonawala, Nitash;
- Maas, Saskia M.;
- Alders, Marielle;
- Majoie, Charles B.;
- Fliers, Eric;
- van Trotsenburg, A. S. Paul;
- Hennekam, Raoul C. M.
Publication type:
Other
Correspondence to Gripp et al. nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2293, doi. 10.1002/ajmg.a.38290
By:
- Postema, Floor A. M.;
- Hopman, Saskia M. J.;
- Deardorff, Matthew A.;
- Merks, Johannes H. M.;
- Hennekam, Raoul C.
Publication type:
Article
Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1896, doi. 10.1002/ajmg.a.38124
By:
- Casertano, Alberto;
- Fontana, Paolo;
- Hennekam, Raoul C.;
- Tartaglia, Marco;
- Genesio, Rita;
- Dieber, Tina Barbaro;
- Ortega, Lucia;
- Nitsch, Lucio;
- Melis, Daniela
Publication type:
Article
Wiedemann-Rautenstrauch syndrome: A phenotype analysis.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1763, doi. 10.1002/ajmg.a.38246
By:
- Paolacci, Stefano;
- Bertola, Debora;
- Franco, José;
- Mohammed, Shehla;
- Tartaglia, Marco;
- Wollnik, Bernd;
- Hennekam, Raoul C.
Publication type:
Article
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1739, doi. 10.1002/ajmg.a.38267
By:
- Wade, Emma M.;
- Jenkins, Zandra A.;
- Daniel, Philip B.;
- Morgan, Tim;
- Addor, Marie C.;
- Adés, Lesley C.;
- Bertola, Debora;
- Bohring, Axel;
- Carter, Erin;
- Cho, Tae‐Joon;
- de Geus, Christa M.;
- Duba, Hans‐Christoph;
- Fletcher, Elaine;
- Hadzsiev, Kinga;
- Hennekam, Raoul C. M.;
- Kim, Chong A.;
- Krakow, Deborah;
- Morava, Eva;
- Neuhann, Teresa;
- Sillence, David
Publication type:
Article
Nomenclature and definition in asymmetric regional body overgrowth.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1735, doi. 10.1002/ajmg.a.38266
By:
- Kalish, Jennifer M.;
- Biesecker, Leslie G.;
- Brioude, Frederic;
- Deardorff, Matthew A.;
- Di Cesare‐Merlone, Alessandra;
- Druley, Todd;
- Ferrero, Giovanni B.;
- Lapunzina, Pablo;
- Larizza, Lidia;
- Maas, Saskia;
- Macchiaiolo, Marina;
- Maher, Eamonn R.;
- Maitz, Silvia;
- Martinez‐Agosto, Julian A.;
- Mussa, Alessandro;
- Robinson, Peter;
- Russo, Silvia;
- Selicorni, Angelo;
- Hennekam, Raoul C.
Publication type:
Article
Cover Image, Volume 173A, Number 7, July 2017.
Published in:
2017
By:
- Kalish, Jennifer M.;
- Biesecker, Leslie G.;
- Brioude, Frederic;
- Deardorff, Matthew A.;
- Di Cesare‐Merlone, Alessandra;
- Druley, Todd;
- Ferrero, Giovanni B.;
- Lapunzina, Pablo;
- Larizza, Lidia;
- Maas, Saskia;
- Macchiaiolo, Marina;
- Maher, Eamonn R.;
- Maitz, Silvia;
- Martinez‐Agosto, Julian A.;
- Mussa, Alessandro;
- Robinson, Peter;
- Russo, Silvia;
- Selicorni, Angelo;
- Hennekam, Raoul C.
Publication type:
Other
Health-related quality of life in children with Robin sequence.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 54, doi. 10.1002/ajmg.a.37968
By:
- Basart, Hanneke;
- van Oers, Hedy A.;
- Paes, Emma C.;
- Breugem, Corstiaan C.;
- Don Griot, J. Peter W.;
- van der Horst, Chantal M. A. M.;
- Haverman, Lotte;
- Hennekam, Raoul C.
Publication type:
Article
3D morphometry aids facial analysis of individuals with a childhood cancer.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2905, doi. 10.1002/ajmg.a.37850
By:
- Hopman, Saskia M. J.;
- Merks, Johannes H. M.;
- Suttie, Michael;
- Hennekam, Raoul C. M.;
- Hammond, Peter
Publication type:
Article
GAUDEAMUS IGITUR...In gratitude to John Carey for his stewardship of the American Journal of Medical Genetics 2001-2016.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2501, doi. 10.1002/ajmg.a.37760
By:
- Opitz, John M.;
- Biesecker, Leslie G.;
- Hennekam, Raoul C.
Publication type:
Article
Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2248, doi. 10.1002/ajmg.a.37801
By:
- Maas, Saskia M.;
- Vansenne, Fleur;
- Kadouch, Daniel J. M.;
- Ibrahim, Abdulla;
- Bliek, Jet;
- Hopman, Saskia;
- Mannens, Marcel M.;
- Merks, Johannes H. M.;
- Maher, Eamonn R.;
- Hennekam, Raoul C.
Publication type:
Article
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 1989, doi. 10.1002/ajmg.a.37757
By:
- De Maria, Beatrice;
- Mazzanti, Laura;
- Roche, Nathalie;
- Hennekam, Raoul C.
Publication type:
Article
Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2508, doi. 10.1002/ajmg.a.37248
By:
- Kariminejad, Ariana;
- Nafissi, Shahriar;
- Nilipoor, Yalda;
- Tavasoli, Alireza;
- Van Veldhoven, Paul P.;
- Bonnard, Carine;
- Ng, Yeng Ting;
- Majoie, Charles B.;
- Reversade, Bruno;
- Hennekam, Raoul C.
Publication type:
Article
Etiology and pathogenesis of robin sequence in a large Dutch cohort.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 1983, doi. 10.1002/ajmg.a.37154
By:
- Basart, Hanneke;
- Paes, Emma C.;
- Maas, Saskia M.;
- van den Boogaard, Marie‐Jose H.;
- van Hagen, Johanna M.;
- Breugem, Corstiaan C.;
- Cobben, Jan Maarten;
- Don Griot, J. Peter W.;
- Lachmeijer, Augusta M. A.;
- Lichtenbelt, Klaske D.;
- van Nunen, Daan P. F.;
- van der Horst, Chantal M.;
- Hennekam, Raoul C.
Publication type:
Article
Frontometaphyseal dysplasia and keloid formation without FLNA mutations.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1215, doi. 10.1002/ajmg.a.37044
By:
- Basart, Hanneke;
- van de Kar, Annekatrien;
- Adès, Lesley;
- Cho, Tae‐Joon;
- Carter, Erin;
- Maas, Saskia M.;
- Wilson, Louise C.;
- van der Horst, Chantal M. A. M.;
- Wade, Emma M.;
- Robertson, Stephen P.;
- Hennekam, Raoul C.
Publication type:
Article
Etiology of non-immune hydrops fetalis: An update.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1082, doi. 10.1002/ajmg.a.36988
By:
- Bellini, Carlo;
- Donarini, Gloria;
- Paladini, Dario;
- Calevo, Maria Grazia;
- Bellini, Tommaso;
- Ramenghi, Luca A;
- Hennekam, Raoul C
Publication type:
Article
Ocular pterygium-Digital keloid dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2901, doi. 10.1002/ajmg.a.36713
By:
- Abarca, Hugo;
- Mellgren, Anne E Christensen;
- Trubnykova, Milana;
- Haugen, Olav H.;
- Høvding, Gunnar;
- Tveit, Kåre Steinar;
- Houge, Gunnar;
- Bredrup, Cecilie;
- Hennekam, Raoul C
Publication type:
Article
Growth charts for individuals with Rubinstein-Taybi syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2300, doi. 10.1002/ajmg.a.36654
By:
- Beets, Lex;
- Rodríguez‐Fonseca, Cristina;
- Hennekam, Raoul C.
Publication type:
Article
Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2317, doi. 10.1002/ajmg.a.36668
By:
- Nampoothiri, Sheela;
- Yesodharan, Dhanya;
- Sainulabdin, Gazel;
- Narayanan, Dhanyalakshmi;
- Padmanabhan, Laxmi;
- Girisha, Katta Mohan;
- Cathey, Sara S.;
- De Paepe, Anne;
- Malfait, Fransiska;
- Syx, Delfien;
- Hennekam, Raoul C.;
- Bonafe, Luisa;
- Unger, Sheila;
- Superti‐Furga, Andrea
Publication type:
Article
Focal dermal hypoplasia without focal dermal hypoplasia.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 778, doi. 10.1002/ajmg.a.36341
By:
- Contreras‐Capetillo, Silvina N.;
- Lombardi, Maria Paola;
- Pinto‐Escalante, Doris;
- Hennekam, Raoul C.
Publication type:
Article
Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 10, doi. 10.1002/ajmg.a.36235
By:
- Sousa, Sérgio B.;
- Ramos, Fabiana;
- Garcia, Paula;
- Pais, Rui P.;
- Paiva, Catarina;
- Beales, Philip L.;
- Moore, Gudrun E.;
- Saraiva, Jorge M.;
- Hennekam, Raoul C. M.
Publication type:
Article
Elements of morphology: General terms for congenital anomalies.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2726, doi. 10.1002/ajmg.a.36249
By:
- Hennekam, Raoul C.;
- Biesecker, Leslie G.;
- Allanson, Judith E.;
- Hall, Judith G.;
- Opitz, John M.;
- Temple, I Karen;
- Carey, John C.
Publication type:
Article
Intellectual disability, unusual facial morphology and hand anomalies in sibs.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2401, doi. 10.1002/ajmg.a.36124
By:
- Sousa, Sérgio B.;
- Venâncio, Margarida;
- Chanudet, Estelle;
- Palmer, Rodger;
- Ramos, Lina;
- Beales, Philip L.;
- Moore, Gudrun E.;
- Saraiva, Jorge M.;
- Hennekam, Raoul C.
Publication type:
Article
Progressive extreme heterotopic calcification.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1706, doi. 10.1002/ajmg.a.35944
By:
- Silengo, Margherita;
- Defilippi, Claudio;
- Belligni, Elga;
- Biamino, Elisa;
- Flex, Elisabetta;
- Brusco, Alfredo;
- Ferrero, Giovanni Battista;
- Tartaglia, Marco;
- Hennekam, Raoul C.
Publication type:
Article
Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2733, doi. 10.1002/ajmg.a.35681
By:
- de Munnik, Sonja A.;
- Otten, Barto J.;
- Schoots, Jeroen;
- Bicknell, Louise S.;
- Aftimos, Salim;
- Al-Aama, Jumana Y.;
- van Bever, Yolande;
- Bober, Michael B.;
- Borm, George F.;
- Clayton-Smith, Jill;
- Deal, Cheri L.;
- Edrees, Alaa Y.;
- Feingold, Murray;
- Fryer, Alan;
- van Hagen, Johanna M.;
- Hennekam, Raoul C.;
- Jansweijer, Maaike C.E.;
- Johnson, Diana;
- Kant, Sarina G.;
- Opitz, John M.
Publication type:
Article
The complex craniofacial signature of fibrodysplasia ossificans progressiva: Whose handwriting is it?
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2979, doi. 10.1002/ajmg.a.35616
By:
- Hammond, Peter;
- Suttie, Michael;
- Hennekam, Raoul C.;
- Allanson, Judith;
- Shore, Eileen M.;
- Kaplan, Frederick S.
Publication type:
Article
The face signature of fibrodysplasia ossificans progressiva.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1368, doi. 10.1002/ajmg.a.35346
By:
- Hammond, Peter;
- Suttie, Michael;
- Hennekam, Raoul C.;
- Allanson, Judith;
- Shore, Eileen M.;
- Kaplan, Frederick S.
Publication type:
Article
The face in congenital melanocytic nevus syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1014, doi. 10.1002/ajmg.a.34217
By:
- Kinsler, Veronica;
- Shaw, Adam C.;
- Merks, Johannes H.;
- Hennekam, Raoul C.
Publication type:
Article

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