C. Die-Smulders

发表

Hereditary muscular dystrophies and the heart

Y. Pinto, H. Crijns, C. Faber, 2010, Neuromuscular Disorders.

Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice

A. Bredenoord, G. Pennings, G. Wert, 2009, European Journal of Human Genetics.

Distal limb deficiency, micrognathia syndrome (OMIM 246560) and syndromic forms of split hand foot malformation (SHFM) re caused by chromosome 10q genomic rearrangements

J. Vermeesch, A. Toutain, T. Liehr, 2008 .

Oculocerebrocutaneous syndrome: report of three additional cases and aetiological considerations

U. Moog, J. Cobben, C. Die-Smulders, 1997, Clinical genetics.

To Test or Not to Test? Metabolic Testing in Adolescents and Adults with Intellectual Disability.

U. Moog, C. Schrander‐Stumpel, C. Die-Smulders, 2008 .

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

A. Green, I. Kaitila, R. Hennekam, 2010, European Journal of Human Genetics.

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

H. Smeets, A. Paulussen, A. Haeringen, 2010, European Journal of Human Genetics.

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

K. Jones, A. Giannotti, M. Campo, 1999, Human molecular genetics.

Selecting the Right Embryo in Mitochondrial Disorders

H. Smeets, J. Dreesen, S. Sallevelt, 2015 .

Molecular Analysis of Myophosphorylase Deficiency in Dutch Patients with McArdle's Disease

B. V. van Engelen, R. Wevers, J. Arenas, 2004, Annals of human genetics.

Connexin 32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease

S. Kemp, M. Visser, C. Die-Smulders, 1997 .

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

B. D. de Vries, C. Saris, L. H. van den Berg, 2019, European Journal of Human Genetics.

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

M. Kamermans, A. Vanderver, D. Galanaud, 2013, The Lancet Neurology.

A Mutation in the Protein S Pseudogene Is Linked to Protein S Deficiency in a Thrombophilic Family

P. Reitsma, P. Mannucci, R. Bertina, 1989, Thrombosis and Haemostasis.

Reproductive options for prospective parents in families with Huntington's disease: clinical, psychological and ethical reflections.

I. Liebaers, C. D. de Die-Smulders, G. Evers‐Kiebooms, 2013, Human reproduction update.

Age and causes of death in adult-onset myotonic dystrophy.

H. Smeets, C. D. de Die-Smulders, J. Geraedts, 1998, Brain : a journal of neurology.

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

Y. Pijnenburg, L. H. van den Berg, P. Heutink, 2012, Brain : a journal of neurology.

PGD to reduce reproductive risk: the case of mitochondrial DNA disorders.

A. Bredenoord, G. Pennings, W. Dondorp, 2008, Human reproduction.

ESHRE preimplantation genetic diagnosis consortium: Data collection III (May 2001)

S. Viville, K. Sermon, C. Staessen, 2002 .

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.

E. Zackai, M. Muenke, D. Viskochil, 1995, Human molecular genetics.

Pfeiffer syndrome type 2: further delineation and review of the literature.

J. Fryns, A. Verloes, A. Plomp, 1998, American journal of medical genetics.

Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012.

A. Paulussen, L. Smits, A. Coumans, 2013, Human reproduction update.

Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography.

H. Smeets, B. J. van den Bosch, C. D. de Die-Smulders, 2000, Nucleic acids research.