Josephson KD - Search Results

1

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.

Ng BG, Underhill HR, Palm L, Bengtson P, Rozet JM, Gerber S, Munnich A, Zanlonghi X, Stevens CA, Kircher M, Nickerson DA, Buckingham KJ, Josephson KD, Shendure J, Bamshad MJ; University of Washington Center for Mendelian Genomics; Freeze HH, Eklund EA. Ng BG, et al. Among authors: josephson kd. JIMD Rep. 2019;44:85-92. doi: 10.1007/8904_2018_128. Epub 2018 Aug 17. JIMD Rep. 2019. PMID: 30117111 Free PMC article.

2

Marden-Walker syndrome: a case report and a critical review of the literature.

Williams MS, Josephson KD, Wargowski DS. Williams MS, et al. Among authors: josephson kd. Clin Dysmorphol. 1993 Jul;2(3):211-9. Clin Dysmorphol. 1993. PMID: 7506965 Review.

3

Investigation of thermoregulatory characteristics in patients with Prader-Willi syndrome.

Williams MS, Rooney BL, Williams J, Josephson K, Pauli R. Williams MS, et al. Am J Med Genet. 1994 Feb 1;49(3):302-7. doi: 10.1002/ajmg.1320490312. Am J Med Genet. 1994. PMID: 8209890

4

Patterson-Lowry rhizomelic dysplasia: a possible second example.

Williams MS, Josephson KD, Pauli RM. Williams MS, et al. Among authors: josephson kd. Clin Dysmorphol. 1995 Jul;4(3):216-21. Clin Dysmorphol. 1995. PMID: 7551157

5

Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease changes: novel association or syndrome?

Larson AR, Josephson KD, Pauli RM, Opitz JM, Williams MS. Larson AR, et al. Among authors: josephson kd. Am J Med Genet. 2001 Jun 15;101(2):158-62. Am J Med Genet. 2001. PMID: 11391660

6

Smith-Lemli-Opitz syndrome: thirty-year follow-up of "S" of "RSH" syndrome.

Pauli RM, Williams MS, Josephson KD, Tint GS. Pauli RM, et al. Among authors: josephson kd. Am J Med Genet. 1997 Jan 31;68(3):260-2. doi: 10.1002/(sici)1096-8628(19970131)68:3<260::aid-ajmg3>3.0.co;2-q. Am J Med Genet. 1997. PMID: 9024556

7

Unusual autosomal recessive lymphatic anomalies in two unrelated Amish families.

Williams MS, Josephson KD. Williams MS, et al. Among authors: josephson kd. Am J Med Genet. 1997 Dec 19;73(3):286-9. doi: 10.1002/(sici)1096-8628(19971219)73:3<286::aid-ajmg11>3.0.co;2-f. Am J Med Genet. 1997. PMID: 9415686

8

Macrocephaly, distinct craniofacial appearance, and spastic paraplegia: a new case and expansion of the phenotype.

Williams MS, Josephson KD. Williams MS, et al. Among authors: josephson kd. Am J Med Genet A. 2003 Sep 1;121A(3):281-2. doi: 10.1002/ajmg.a.20274. Am J Med Genet A. 2003. PMID: 12923872

9

Suspected gonadal mosaicism for isochromosomes 18p and 18q unsubstantiated by fluorescence in situ hybridization analysis of sperm.

Williams MS, Josephson KD, Gursoy N, Jackson-Cook C. Williams MS, et al. Among authors: josephson kd. Genet Med. 2001 Jul-Aug;3(4):318-20. doi: 10.1097/00125817-200107000-00010. Genet Med. 2001. PMID: 11478534 Free article.

10

Autosomal dominant hypohidrotic ectodermal dysplasia in a large family.

Aswegan AL, Josephson KD, Mowbray R, Pauli RM, Spritz RA, Williams MS. Aswegan AL, et al. Among authors: josephson kd. Am J Med Genet. 1997 Nov 12;72(4):462-7. doi: 10.1002/(sici)1096-8628(19971112)72:4<462::aid-ajmg17>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9375732

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